医学
外显子组测序
先证者
听力损失
外显子组
表型
候选基因
遗传学
基因
生物信息学
听力学
突变
生物
作者
Bong Jik Kim,Ah Reum Kim,Gibeom Park,Woong‐Yang Park,Sun O Chang,Seung Ha Oh,Byung Yoon Choi
出处
期刊:Otology & Neurotology
[Ovid Technologies (Wolters Kluwer)]
日期:2015-04-03
卷期号:36 (6): 1096-1102
被引量:13
标识
DOI:10.1097/mao.0000000000000747
摘要
TES of a deafness panel provides a comprehensive genetic screening tool that can be implemented without being misled by the audiogram configuration information and can complement incomplete clinical physical examinations. In addition, the secondary incidental finding obtained by TES contributes useful information regarding the deafness field.
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