cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.26188/21563469
title: Snippets of the Hopeful Dimensions of Working in the Field of Teacher Education

description: These pages provide printable A3 copies of data (image and text) that were gathered as part a research project titled: <em>Seeing inside the field: From those who work in teacher education. </em>For more information about the project see the URL: https://omeka.cloud.unimelb.edu.au/seeinginside/
DOI: 10.26188/21563469.v1
title: Snippets of the Hopeful Dimensions of Working in the Field of Teacher Education

description: These pages provide printable A3 copies of data (image and text) that were gathered as part a research project titled: <em>Seeing inside the field: From those who work in teacher education. </em>For more information about the project see the URL: https://omeka.cloud.unimelb.edu.au/seeinginside/
DOI: 10.6084/m9.figshare.21229496
title: Data and code for "Exploring Deep Learning for Metalloporphyrins: Databases, Molecular Representations, and Model Architectures" by An Su, Chengwei Zhang, Yuan-Bin She, and Yun-Fang Yang

description: Data and code for "Exploring Deep Learning for Metalloporphyrins: Databases, Molecular Representations, and Model Architectures" by An Su, Chengwei Zhang, Yuan-Bin She, and Yun-Fang Yang.
DOI: 10.6084/m9.figshare.20115467
title: Data for "Eighty million years of rapid evolution of the primate Y chromosomes"

description: This folder contains data for "Eighty million years of rapid evolution of the primate Y chromosome" gene_set.zip contains gene annotation (GFF, CDS, PEP, POS.ADD) for the 30 species used in this study XY_location.zip contains the genomic coordinates for PAR, nonPARX and nonPARY (BED format). Species names are in the 4th column. gametolog_alignment.tar.gz contains gametolog alignment (PHY format) used to calculate pairwise dN/dS. S5.tree.zip contains alignment (FASTA format) and constructed phylogeny (NWK format) for each S5 gametologs. Conserved_Segments.100K.inferCARs contains conserved blocks of the X chromosome across species (inferCARs format) XY_SV.zip contains the sequences used in Y reconstruction analysis (FASTA format), and the recontruction results under 30 Kb resolution (30K/) and 50 Kb resolution (50K/) NLGN4XY.sort.prank.best.fas contains alignment of NLGN4X/Y of each primate trait_selection_analysis.zip contains sequence alignment (FASTA format) of each Y-linked genes used for dN/dS calculation in trait selection analysis. <br> <br> <br>
DOI: 10.6084/m9.figshare.21563475
title: Raw Data of the manuscript (1047932).zip

description: The data of our work was stored here. The title of our manuscript is Antioxidant Properties of Water-Soluble Polysaccharides Prepared by Co-Culture Fermentation of Straw and Shrimp Shell.
DOI: 10.6084/m9.figshare.21563475.v1
title: Raw Data of the manuscript (1047932).zip

description: The data of our work was stored here. The title of our manuscript is Antioxidant Properties of Water-Soluble Polysaccharides Prepared by Co-Culture Fermentation of Straw and Shrimp Shell.
DOI: 10.34740/kaggle/dsv/4521382
title: 🇺🇦 Ukraine Conflict Twitter Dataset
DOI: 10.17909/4abm-k128
title: CEERS/NIRCam - June 2022 observations

description: NIRCam observations from the JWST/CEERS project (PI: S. Finkelstein, program ID: JWST-ERS-1345). Only those observations taken in June 2022 are included.
DOI: 10.5281/zenodo.7325715
title: Parameters of dielectric properties and emissivity estimated for Earth arid areas.

description: Dataset gives the parameters estimated from passive microwave observations of the dielectric properties and emissivities of arid areas at 10 to 89 GHz.
DOI: 10.6084/m9.figshare.21563508
title: Details of RoB2: Bladder training for treating overactive bladder in adults

description: This is a dataset for details of RoB2 in the Cochran Systematic Review, Bladder training for treating overactive bladder in adults.
DOI: 10.6084/m9.figshare.21563508.v1
title: Details of RoB2: Bladder training for treating overactive bladder in adults

description: This is a dataset for details of RoB2 in the Cochran Systematic Review, Bladder training for treating overactive bladder in adults.
DOI: 10.6084/m9.figshare.21563508.v2
title: Details of RoB2: Bladder training for treating overactive bladder in adults

description: This is a dataset for details of RoB2 in the Cochran Systematic Review, Bladder training for treating overactive bladder in adults.
DOI: 10.6084/m9.figshare.21563517
title: scDCC data

description: Datasets used in scDCC paper with gene names and cell names.
DOI: 10.34740/kaggle/dsv/4521550
title: Contrastive Language Image Pretraining by openai
DOI: 10.5281/zenodo.7197768
title: Dataset for Liu et al. (2022), "Convection and Clouds under Different Planetary Gravities Simulated by a Small-domain Cloud-resolving Model"

description: Dataset for Liu et al. (2022), "Convection and Clouds under Different Planetary Gravities Simulated by a Small-domain Cloud-resolving Model".
DOI: 10.5281/zenodo.7197767
title: Dataset for Liu et al. (2022), "Convection and Clouds under Different Planetary Gravities Simulated by a Small-domain Cloud-resolving Model"

description: Dataset for Liu et al. (2022), "Convection and Clouds under Different Planetary Gravities Simulated by a Small-domain Cloud-resolving Model".
DOI: 10.6084/m9.figshare.21563541.v1
title: Multi-centric Phase III, single-arm, open-label clinical study to assess clinical safety, tolerability, and efficacy of I.V. Lacosamide for Focal Onset Seizures (FOS)

description: This is a DATA set for the repository link needed for publishing an article on Multi-centric Phase III, single-arm, open-label clinical study to assess clinical safety, tolerability, and efficacy of I.V. Lacosamide for Focal Onset Seizures (FOS)
DOI: 10.5281/zenodo.7307694
title: Data for Unimon Qubit

description: This dataset contains the experimental data used in the figures of the paper "Unimon qubit" by Hyyppä, E., Kundu, S., ..., and Möttönen M. published in <em>Nature Communications</em> <strong>13</strong>, 6895 (2022): https://doi.org/10.1038/s41467-022-34614-w. The data is stored mostly as csv-files, the contents of which are explained in the readme-files. Each subfolder also contains a Jupyter Notebook for plotting the data.
DOI: 10.5281/zenodo.7052804
title: Data for Unimon Qubit

description: This dataset contains the experimental data used in the figures of the paper "Unimon qubit" by Hyyppä, E., Kundu, S., ..., and Möttönen M. published in <em>Nature Communications</em> <strong>13</strong>, 6895 (2022): https://doi.org/10.1038/s41467-022-34614-w. The data is stored mostly as csv-files, the contents of which are explained in the readme-files. Each subfolder also contains a Jupyter Notebook for plotting the data.
DOI: 10.5281/zenodo.4433116
title: Data for "Systematic Mapping of Open Data Studies: Classification and Trends from a Technological Perspective"

description: Data used to perform a systematic mapping to classify and analyse existing research on open data from a technological viewpoint from 2006 to 2019. This dataset contains information from six key facets from the collected publications coming from several scientific repositories/databases: publication venue, impact, subject, domain, life-cycle and research type.
DOI: 10.5281/zenodo.4433117
title: Data for "Systematic Mapping of Open Data Studies: Classification and Trends from a Technological Perspective"

description: Data used to perform a systematic mapping to classify and analyse existing research on open data from a technological viewpoint from 2006 to 2019. This dataset contains information from six key facets from the collected publications coming from several scientific repositories/databases: publication venue, impact, subject, domain, life-cycle and research type.
DOI: 10.15151/esrf-es-925617499
title: NORWAY BAG

description: The fifteen PIs associated to this proposal represent the entire crystallography community in Norway and are affiliated to the major Norwegian universities. The research interests of the PIs and their collaborators revolves around topics linked to structural biology and material sciences. We apply for beam time for single- and multi-wavelength MX, Bio-SAXS and Cryo-EM, in support of our research projects funded e.g. by the Research Council of Norway and the ERC. Examples of research projects or topics are carbohydrate-active proteins of medical or bioeconomic relevance, inhibition of DNA repair enzymes, metalloprotein function and catalysis, regulation of cell-cycle processes, enzyme discovery, antibiotic resistance/drug-discovery and neurological diseases. Our overarching aim is to use bright synchrotron sources to produce high quality science.
DOI: 10.15151/esrf-es-953232781
title: Institut Pasteur BAG - Structural biology of infectious agents

description: The Institut Pasteur’s BAG gathers the projects of the research units and platforms of the Institut Pasteur in Paris which are active in the field of structural biology: Structural Microbiology (P.M. Alzari), Structural Dynamics of Macromolecules (M. Delarue), Structural Virology (F. Rey) and the Platform of Crystallography (A. Haouz). A non-exhaustive list of ongoing projects includes: - actinobacterial cell division proteins, central metabolic enzymes and their complexes; - DNA gyrases, topoisomerases and regulators from mycobacteria or model organisms; - Plasmodium proteases as drug targets; - eukaryotic and archeal DNA polymerases and replisome proteins; - viral envelope proteins from pathogenic viruses, and their complexes with neutralizing antibodies; - enzymes and structural proteins from other human pathogens, supported by evolving national and international collaborations.
DOI: 10.15151/esrf-es-953232152
title: Bone behavior around a self-tapping dental implant during its insertion

description: The development of internal strains in the bone are one of the key parameters when studying osseointegration and post-implantation pain. The success and longevity of the implantation process depends on it. In that context, the requested time slot will be used to assess for the displacements induced during the implant insertion process, in order to estimate the strains developed in the peri-implant bone. It is assumed that the strains experienced by the bone around a self-tapping implant are different from those experienced around an implant whose shaft is pre-tapped. The aim of this study is hence to investigate the difference in peri-implant bone strains development around both types of implants.
DOI: 10.6084/m9.figshare.21563514
title: analyses.zip

description: These datasets were used in the study of "Comparative phylogeography in the Taiwan-Luzon volcanic belt indicates fast diversification history of <em>Pachyrhynchus </em>weevils (Coleoptera: Curculionidae)" which has been submitted to Insect Systematics and Diversity.
DOI: 10.6084/m9.figshare.21563514.v1
title: analyses.zip

description: These datasets were used in the study of "Comparative phylogeography in the Taiwan-Luzon volcanic belt indicates fast diversification history of <em>Pachyrhynchus </em>weevils (Coleoptera: Curculionidae)" which has been submitted to Insect Systematics and Diversity.
DOI: 10.2908/migr_imm2ctz
title: Immigration by age, sex and group of citizenship
title: Immigration par âge, sexe et groupe de nationalité
title: Einwanderung nach Alter, Geschlecht und Staatsangehörigkeitsgruppe
DOI: 10.2908/migr_imm4ctb
title: Immigration by age, sex and group of country of birth
title: Einwanderung nach Alter, Geschlecht und Geburtslandsgruppe
title: Immigration par âge, sexe et groupe de pays de naissance
DOI: 10.2908/migr_imm6ctz
title: Immigration by sex, citizenship and group of country of birth
title: Immigration par sexe, nationalité et groupe de pays de naissance
title: Einwanderung nach Geschlecht, Staatsangehörigkeit und Geburtslandsgruppe
DOI: 10.2908/migr_imm7ctb
title: Einwanderung nach Geschlecht, Geburtsland und Staatsangehörigkeitsgruppe
title: Immigration par sexe, pays de naissance et groupe de nationalité
title: Immigration by sex, country of birth and group of citizenship
DOI: 10.2908/migr_pop4ctb
title: Population au 1er janvier par âge, sexe et groupe de pays de naissance
title: Population on 1 January by age, sex and group of country of birth
title: Bevölkerung am 1. Januar nach Alter, Geschlecht und Geburtslandsgruppe
DOI: 10.2908/migr_pop5ctz
title: Population au 1er janvier par sexe, nationalité et groupe de pays de naissance
title: Bevölkerung am 1. Januar nach Geschlecht, Staatsangehörigkeit und Geburtslandsgruppe
title: Population on 1 January by sex, citizenship and group of country of birth
DOI: 10.2908/migr_pop6ctb
title: Bevölkerung am 1. Januar nach Geschlecht, Geburtsland und Staatsangehörigkeitsgruppe
title: Population on 1 January by sex, country of birth and group of citizenship
title: Population au 1er janvier par sexe, pays de naissance et groupe de nationalité
DOI: 10.6084/m9.figshare.21552699
title: Appendix 1

description: Dataset comprising all mutualistic lizard-plant interactions reported until 2022.
DOI: 10.6084/m9.figshare.21552699.v1
title: Appendix 1

description: Dataset comprising all mutualistic lizard-plant interactions reported until 2022.
DOI: 10.6084/m9.figshare.21552711
title: Appendix 2

description: Dataset with all the selected literature from the bibliographical search developed in the study ' Environmental and morphological drivers of mutualistic plant-lizard interactions: a global review'
DOI: 10.6084/m9.figshare.21552711.v1
title: Appendix 2

description: Dataset with all the selected literature from the bibliographical search developed in the study ' Environmental and morphological drivers of mutualistic plant-lizard interactions: a global review'
DOI: 10.2908/migr_emi5nxt
title: Auswanderung nach Landgruppe des nächsten Wohnsitzes
title: Emigration par groupe de pays de prochaine résidence
title: Emigration by group of country of next usual residence
DOI: 10.34683/sr100
title: StoneRounds Case: SR100
title: Type 1 Usher Syndrome

description: StoneRounds Case SR100 was diagnosed with Type 1 Usher Syndrome likely caused by mutations in the gene: USH1C.
DOI: 10.5281/zenodo.7325829
title: DataRaw22RodoThesis

description: Raw data to build `bookdown` book Manuscript22RodoThesis
DOI: 10.5281/zenodo.7325828
title: DataRaw22RodoThesis

description: Raw data to build `bookdown` book Manuscript22RodoThesis
DOI: 10.23729/2789c83b-7a74-4967-952b-52d51131d930
title: Talvadas, Dálvadas

description: Saamelaisen folkloren (kertomusperinteen) tutkimusprojekti, joka on edelleen toiminnassa. Projekti alkoi vuonna 1965 ja sen aktiivivaihe oli vuosina 1965–1975. Tutkimuksen pääkohteina olivat Suomen, Ruotsin ja Norjan Lapin alueet ja Utsjoella, Tenojoen varressa sijaitseva Talvadaksen (Dálvadas) kylä sekä sen lähikylät Nuvvus, Aittijoki ja Porta. Yhteydenpito ja kenttätyöt ovat jatkuneet nykypäivään asti. Kenttätyömatkoilla on haastateltu lähes 400 henkilöä. Aineistoon kuuluu yli 1200 ääniteyksikköä, noin 500 valokuvaa, noin 900 diaa ja muutamia videoita sekä haastattelujen litteraatioita ja muuta kenttätyöaineistoa. Suurin osa av-aineistosta on digitoitu.
DOI: 10.34683/sr40
title: StoneRounds Case: SR40
title: Senior-Loken Syndrome

description: StoneRounds Case SR40 was diagnosed with Senior-Loken Syndrome likely caused by mutations in the gene: IFT140.
DOI: 10.34683/sr35
title: StoneRounds Case: SR35
title: AD Optic Neuropathy

description: StoneRounds Case SR35 was diagnosed with AD Optic Neuropathy likely caused by mutations in the gene: OPA1.
DOI: 10.34683/sr32
title: StoneRounds Case: SR32
title: Bardet Biedl Syndrome

description: StoneRounds Case SR32 was diagnosed with Bardet Biedl Syndrome likely caused by mutations in the gene: BBS10.
DOI: 10.34683/sr26
title: StoneRounds Case: SR26
title: Syndromic Photoreceptor Disease

description: StoneRounds Case SR26 was diagnosed with Syndromic Photoreceptor Disease likely caused by mutations in the gene: WDR19.
DOI: 10.34683/sr48
title: StoneRounds Case: SR48
title: AD Cone and Cone Rod Dystrophy

description: StoneRounds Case SR48 was diagnosed with AD Cone and Cone Rod Dystrophy likely caused by mutations in the gene: GUCA1A.
DOI: 10.34683/sr45
title: StoneRounds Case: SR45
title: XL Retinitis Pigmentosa

description: StoneRounds Case SR45 was diagnosed with XL Retinitis Pigmentosa likely caused by mutations in the gene: RPGR.
DOI: 10.34683/sr44
title: StoneRounds Case: SR44
title: Congenital Stationary Synaptic Dysfunction

description: StoneRounds Case SR44 was diagnosed with Congenital Stationary Synaptic Dysfunction likely caused by mutations in the gene: CACNA1F.
DOI: 10.34683/sr41
title: StoneRounds Case: SR41
title: Sorsby Fundus Dystrophy

description: StoneRounds Case SR41 was diagnosed with Sorsby Fundus Dystrophy likely caused by mutations in the gene: TIMP3.
DOI: 10.34683/sr121
title: StoneRounds Case: SR121
title: AR Retinitis Pigmentosa

description: StoneRounds Case SR121 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: CNGB1.
DOI: 10.34683/sr65
title: StoneRounds Case: SR65
title: Pseudoxanthoma Elasticum

description: StoneRounds Case SR65 was diagnosed with Pseudoxanthoma Elasticum likely caused by mutations in the gene: ABCC6.
DOI: 10.34683/sr61
title: StoneRounds Case: SR61
title: AD Neovascular Inflammatory Vitreoretinopathy

description: StoneRounds Case SR61 was diagnosed with AD Neovascular Inflammatory Vitreoretinopathy likely caused by mutations in the gene: CAPN5.
DOI: 10.34683/sr53
title: StoneRounds Case: SR53
title: ECORD

description: StoneRounds Case SR53 was diagnosed with ECORD likely caused by mutations in the gene: PDE6B.
DOI: 10.34683/sr52
title: StoneRounds Case: SR52
title: Batten Disease

description: StoneRounds Case SR52 was diagnosed with Batten Disease likely caused by mutations in the gene: CLN3.
DOI: 10.34683/sr218
title: StoneRounds Case: SR218
title: XL Cone and Cone Rod Dystrophy

description: StoneRounds Case SR218 was diagnosed with XL Cone and Cone Rod Dystrophy likely caused by mutations in the gene: RPGR.
DOI: 10.34683/sr269
title: StoneRounds Case: SR269
title: Pattern Dystrophy

description: StoneRounds Case SR269 was diagnosed with Pattern Dystrophy likely caused by mutations in the gene: IMPG2.
DOI: 10.34683/sr646
title: StoneRounds Case: SR646
title: AR Optic Neuropathy

description: StoneRounds Case SR646 was diagnosed with AR Optic Neuropathy likely caused by mutations in the gene: ACO2.
DOI: 10.34683/sr671
title: StoneRounds Case: SR671
title: XL Congenital Stationary Night Blindness

description: StoneRounds Case SR671 was diagnosed with XL Congenital Stationary Night Blindness likely caused by mutations in the gene: NYX.
DOI: 10.34683/sr717
title: StoneRounds Case: SR717
title: AD Retinitis Pigmentosa

description: StoneRounds Case SR717 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: PRPF31.
DOI: 10.34683/sr1067
title: StoneRounds Case: SR1067
title: Best Disease

description: StoneRounds Case SR1067 was diagnosed with Best Disease likely caused by mutations in the gene: BEST1.
DOI: 10.34683/sr160
title: StoneRounds Case: SR160
title: Posterior Column Ataxia with Retinitis Pigmentosa

description: StoneRounds Case SR160 was diagnosed with Posterior Column Ataxia with Retinitis Pigmentosa likely caused by mutations in the gene: FLVCR1.
DOI: 10.34683/sr84
title: StoneRounds Case: SR84
title: ECORD

description: StoneRounds Case SR84 was diagnosed with ECORD likely caused by mutations in the gene: IQCB1.
DOI: 10.34683/sr76
title: StoneRounds Case: SR76
title: Batten Disease

description: StoneRounds Case SR76 was diagnosed with Batten Disease likely caused by mutations in the gene: PPT1.
DOI: 10.34683/sr1584
title: StoneRounds Case: SR1584
title: AR Retinitis Pigmentosa

description: StoneRounds Case SR1584 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: CERKL.
DOI: 10.6084/m9.figshare.21563685.v1
title: ExLocation_IE

description: The project contains code for extracting structured geo-location information from social media texts, including our proposed method and other methods for comparison with ours. In addition, a Chinese dataset of expressway geo-location descriptions is also published, which can be used for expressway-related information extraction research.
DOI: 10.6084/m9.figshare.21563685
title: ExLocation_IE

description: The project contains code for extracting structured geo-location information from social media texts, including our proposed method and other methods for comparison with ours. In addition, a Chinese dataset of expressway geo-location descriptions is also published, which can be used for expressway-related information extraction research.
DOI: 10.34683/sr2134
title: StoneRounds Case: SR2134
title: Enhanced S-Cone Syndrome

description: StoneRounds Case SR2134 was diagnosed with Enhanced S-Cone Syndrome likely caused by mutations in the gene: NR2E3.
DOI: 10.34683/sr2154
title: StoneRounds Case: SR2154
title: AD Neovascular Inflammatory Vitreoretinopathy

description: StoneRounds Case SR2154 was diagnosed with AD Neovascular Inflammatory Vitreoretinopathy likely caused by mutations in the gene: CAPN5.
DOI: 10.34683/sr83
title: StoneRounds Case: SR83
title: Posterior Column Ataxia with Retinitis Pigmentosa

description: StoneRounds Case SR83 was diagnosed with Posterior Column Ataxia with Retinitis Pigmentosa likely caused by mutations in the gene: FLVCR1.
DOI: 10.34683/sr763
title: StoneRounds Case: SR763
title: North Carolina Macular Dystrophy

description: StoneRounds Case SR763 was diagnosed with North Carolina Macular Dystrophy likely caused by mutations in the gene: IRX1.
DOI: 10.34683/sr988
title: StoneRounds Case: SR988
title: Occult Macular Dystrophy

description: StoneRounds Case SR988 was diagnosed with Occult Macular Dystrophy likely caused by mutations in the gene: RP1L1.
DOI: 10.34683/sr1740
title: StoneRounds Case: SR1740
title: AD Cone and Cone Rod Dystrophy

description: StoneRounds Case SR1740 was diagnosed with AD Cone and Cone Rod Dystrophy likely caused by mutations in the gene: GUCA1A.
DOI: 10.34683/sr1125
title: StoneRounds Case: SR1125
title: XL Retinitis Pigmentosa

description: StoneRounds Case SR1125 was diagnosed with XL Retinitis Pigmentosa likely caused by mutations in the gene: RPGR.
DOI: 10.34683/sr1733
title: StoneRounds Case: SR1733
title: XL Choroideremia

description: StoneRounds Case SR1733 was diagnosed with XL Choroideremia likely caused by mutations in the gene: CHM.
DOI: 10.34683/sr760
title: StoneRounds Case: SR760
title: Blue Cone Monochromacy

description: StoneRounds Case SR760 was diagnosed with Blue Cone Monochromacy likely caused by mutations in the gene: L/M OPSIN Cluster.
DOI: 10.34683/sr206
title: StoneRounds Case: SR206
title: Leber Congenital Amaurosis

description: StoneRounds Case SR206 was diagnosed with Leber Congenital Amaurosis likely caused by mutations in the gene: NMNAT1.
DOI: 10.34683/sr201
title: StoneRounds Case: SR201
title: SECORD

description: StoneRounds Case SR201 was diagnosed with SECORD likely caused by mutations in the gene: CEP290.
DOI: 10.34683/sr1856
title: StoneRounds Case: SR1856
title: AR Retinitis Pigmentosa

description: StoneRounds Case SR1856 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: CNGA1.
DOI: 10.34683/sr1206
title: StoneRounds Case: SR1206
title: XL Retinitis Pigmentosa

description: StoneRounds Case SR1206 was diagnosed with XL Retinitis Pigmentosa likely caused by mutations in the gene: RPGR.
DOI: 10.34683/sr1665
title: StoneRounds Case: SR1665
title: AR Retinitis Pigmentosa

description: StoneRounds Case SR1665 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: USH2A.
DOI: 10.34683/sr1987
title: StoneRounds Case: SR1987
title: AD Retinitis Pigmentosa

description: StoneRounds Case SR1987 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: RHO.
DOI: 10.34683/sr1884
title: StoneRounds Case: SR1884
title: Best Disease

description: StoneRounds Case SR1884 was diagnosed with Best Disease likely caused by mutations in the gene: BEST1.