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Pedigree of two multiplex families segregating HI and bi-allelic GJB2: c.94C>T: p.(Arg32Cys) and GJB2: c.427C>T: p.(Arg143Trp), respectively; black arrow indicates the proband (A,C). Electropherograms showing the reference and the pathogenic allele (B,D). The red arrows indicate the nucleotides affected by the variant. Het, heterozygous for the variant allele; Wt, wild type (homozygous for the reference allele) (B,D).
