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Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Genet. Med.. 2019-07; 
LiMeng，MeiLingyun，HeChufeng，ChenHongsheng，CaiXinzhang，LiuYalan，TianRunyi，TianQi，SongJian，JiangLu，LiuChang，WuHong，LiTaoxi，LiuJing，LiXiman，YiYifang，YanDenise，BlantonSusan H，HuZhengmao，LiuXuezhong，LiJiada，LingJie，Feng
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Mutagenesis Services The ABCC1-A1769G variant was generated by the Nanjing GenScript Biotechnology Company (Nanjing, China) with site-directed mutagenesis Get A Quote

摘要

To determine?the genetic etiology of deafness in a family (HN-SD01) with autosomal dominant nonsyndromic hearing loss (NSHL).

关键词

ABCC1，cochlea，extrusion pump，hearing loss，stepwise genetic anal
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