Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity

A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p.V37I variant among such subjects and prove, epidemiologically, its pathogenic potential to cause mild hearing loss....

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Detalhes bibliográficos
Main Authors: Kim, So Young, Park, Gibeom, Han, Kyu-Hee, Kim, Ahreum, Koo, Ja-Won, Chang, Sun O., Oh, Seung Ha, Park, Woong-Yang, Choi, Byung Yoon
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3636207/
https://ncbi.nlm.nih.gov/pubmed/23637863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061592
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