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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636207/
https://www.ncbi.nlm.nih.gov/pubmed/23637863
http://dx.doi.org/10.1371/journal.pone.0061592

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