GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Exp Biol Med (Maywood). 2020 Sep;245(15):1355-1367. doi:10.1177/1535370220931035. Epub 2020 Jun 11
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摘要
IMPACT connexins are known to be the major genetic factors associated with HI, only a few studies have investigated GJB4 and GJC3 variants among hearing-impaired patients. This study is the first to report GJB4 and GJC3 variants from an African HI cohort. We have demonstrated that GJB4 and GJC3 genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana. However, it is important to study a larger population to determine the association of GJB4 and GJC3 variants with HI.
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基因功能
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原始数据
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文献解读
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