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Article

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.

Scientific reports - 13 Sept 2016

Chen Ying, Hu Lingxiang, Wang Xueling, Sun Changling, Lin Xin, Li Lei, Mei Ling, Huang Zhiwu, Yang Tao, Wu Hao

Abstract excerpt

The homozygous p.V37I variant in GJB2 is prevalent in East and Southeast Asians and may lead to mild-to-moderate hearing loss with reduced penetrance. To investigate the pathogenic mechanism underlying this variant, we generated a knock-in mouse model of homozygous p.V37I by an embryonic stem cell gene targeting method. Auditory brainstem response test showed that the knock-in mice developed progressive,...

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Source

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Identifiers

PMID: 27623246
DOI: 10.1038/srep33279
PMCID: PMC5020688

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.PMID 27623246Read ↗

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