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Additional file 1: Table S1. of A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report
The proband’s (II-2 in Fig. 2) results of genetic screening of LQT causative genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5). Entire coding exons, including the intronic boundaries of the genes were analyzed. (XLSX 10 kb