The homozygous p. V37I variant of GJB2 is associated with diverse hearing phenotypes

Abstract excerpt

The homozygous p.V37I variant of GJB2 is frequent in East Asians and has been reported to have a pathogenic role in mild-to-moderate hearing impairment (HI). In this study, we investigated the prevalence and phenotypic spectrum of homozygous p.V37I in three Chinese Han cohorts with severe-to-profound HI (n = 857, Cohort S), mild-to-moderate HI (n = 88, Cohort M) and normal hearing (n = 1550, Cohort N). Sequencing...

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