Article
Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.
PloS one - 1 Jan 2013
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
Abstract excerpt
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. A total of 380 subjects from 201 families with hearing loss were enrolled. From them, 103 families were selected...
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