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.
Published in: Human Genomics
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Pharmacology, Toxicology and Pharmaceutics
SJR best quartile: Q1