Title: Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
Authors: Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C
Journal: Human Genomics
Publication type: article
DOI: 10.1186/s40246-018-0167-1