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The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
Journal of Genetics and Genomics ( IF 5.9 ) Pub Date : 2019-09-27 , DOI: 10.1016/j.jgg.2019.09.003
Yilai Shu 1 , Lijun Wang 2 , Xiaoting Cheng 1 , Chayada Tangshewinsirikul 3 , Weili Shi 4 , Yasheng Yuan 1 , Zhiqiang Yan 5 , Huawei Li 1 , Jun Shen 6 , Bing Chen 1 , Weiguo Zou 2
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中文翻译:

NOG中的p。(Pro170Leu)变体削弱了头蛋白的分泌,并由于骨强直而导致常染色体显性先天性传导性听力丧失。

更新日期:2019-11-01
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