The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population

Mutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C > T (p.R180*) variants caused high-frequency hearing loss. But after that, few reports have reported this mutation. This study investigated the relationship between the GJB3 c.538C > T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families.

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