De novo ACTG1 variant expands phenotype and genotype of partial deafness and Baraitser-Winter syndrome
Authors: Dawidziuk Mateusz, Kutkowska-Kazmierczak Anna, Bukowska-Olech Ewelina, Jurek Marta, Kalka Ewa, Guilbride D. Lys, Furmanek Mariusz Ireneusz, Bekiesinska-Figatowska Monika, Bal Jerzy, Gawlinski Pawel
Published in: International Journal of Molecular Sciences
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Chemical Engineering; Chemistry; Computer Science; Medicine
SJR best quartile: Q1