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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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2013
主題:
オンライン・アクセス: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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