外显子组测序
生殖系
外显子组
医学
内科学
生物
计算生物学
癌症研究
肿瘤科
遗传学
突变
基因
作者
Yong Zhang,Yunxia Tao,Qingyun Wu,Yang Liu,Caiyan Zou,Houfa Geng
摘要
We reported a new-found ARMC5 germline variant in PBMAH using WES and protein predictive analysis. With the help of WES, early diagnosis of PBMAH could help variant carriers to prevent the occurrence of cancer by lifetime follow-up.
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