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

International Journal of Pediatric Otorhinolaryngology Sep 11, 2017

Huang S, et al. – The clinicians examined the association between the GJB3 c.538C > T variant and hearing phenotype in a Chinese population in order to assist the risk assessment and genetic counseling for patients with hearing loss. They reported a very low incidence of GJB3 c.538C > T variant in the Chinese population. In addition, they found no clear evidence regarding the role of the GJB3 c.538C > T variant in the autosomal dominant form of non-syndromic deafness. Thus, these findings would help in the genetic counseling and risk prediction for deafness related to the GJB3 c.538C > T variant.
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