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Article

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Oncotarget - 11 Jul 2017

Shen Na, Peng Jing, Wang Xiong, Zhu Yaowu, Liu Weiyong, Liu Aiguo, Lu Yanjun

Abstract excerpt

Pathogenic variants in the gap junction protein beta-2 (GJB2) gene are the most common cause of hearing loss. Of these, the p.V37I variant of GJB2 has a high allele frequency (up to 10%) in East Asians. Characterization of the phenotypic spectrum associated with p.V37I, as well as the role of this variant in the onset of hearing loss could have a remarkable effect on future diagnostic strategies. Here, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28489599
DOI: 10.18632/oncotarget.17325
PMCID: PMC5542302

Genes

GJB2

Provenance

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