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40246_2018_167_MOESM1_ESM.xlsx (24.31 kB)
Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
dataset
posted on 2018-07-03, 05:00 authored by Jakub Fichna, Anna Macias, Marcin Piechota, MichaĹ KorostyĹski, Anna Potulska-Chromik, Maria Redowicz, Cezary ZekanowskiClinical characteristics and WES results (including evidence of pathogenicity according to ACMG criteria) of 85 patients studied. (XLSX 24 kb)