Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.


A number of genes responsible for hearing loss are related to ion recycling and homeostasis in the inner ear. Connexins (Cx26 encoded by GJB2, Cx31 encoded by GJB3 and Cx30 encoded by GJB6) are core components of gap junctions in the inner ear. Gap junctions are intercellular communication channels and important factors that are associated with hearing loss… (More)
DOI: 10.1016/j.bbadis.2012.05.009


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