Fichna, Jakub Macias, Anna Piechota, Marcin Korostyński, Michał Potulska-Chromik, Anna Redowicz, Maria Zekanowski, Cezary Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG criteria) of 85 patients studied. (XLSX 24 kb) Limb-girdle muscular dystrophy;LGMD;Skeletal muscle;Exome;Next generation sequencing;NGS;WES 2018-07-03
    https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Whole-exome_sequencing_identifies_novel_pathogenic_mutations_and_putative_phenotype-influencing_variants_in_Polish_limb-girdle_muscular_dystrophy_patients/6740366
10.6084/m9.figshare.6740366.v1