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

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 v...

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Detalhes bibliográficos
Publicado no:Oncotarget
Main Authors: Shen, Na, Peng, Jing, Wang, Xiong, Zhu, Yaowu, Liu, Weiyong, Liu, Aiguo, Lu, Yanjun
Formato: Artigo
Idioma:Inglês
Publicado em: Impact Journals LLC 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5542302/
https://ncbi.nlm.nih.gov/pubmed/28489599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.17325
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