Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

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Congenital hearing loss occurs in approximately 1 in 1000 live births and 60% of these cases are hereditary.1,2 Non-syndromic autosomal recessive deafness accounts for about 70% of congenital hereditary hearing...