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

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 g...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Chen, Ying, Hu, Lingxiang, Wang, Xueling, Sun, Changling, Lin, Xin, li, Lei, Mei, Ling, Huang, Zhiwu, Yang, Tao, Wu, Hao
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020688/
https://ncbi.nlm.nih.gov/pubmed/27623246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33279
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