Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.

Xinghuan DingSen ZhaoQianqian ZhangZihui YanYang WangYong WuXiaoxin LiJian LiuYuchen NiuYisen ZhangMingqi ZhangHuizi WangYing ZhangWeisheng ChenXin-Zhuang YangPengfei LiuJennifer E PoseyJames R LupskiZhihong WuXinjian Yang Nan WuKun Wang

Published in: Journal of neurointerventional surgery (2019)

NFX1 c.2519T>C (p.Leu840Pro) may contribute to the pathogenetics of a subset of FIAs.

Keyphrases

coronary artery
single cell
copy number
anti inflammatory
optic nerve
abdominal aortic aneurysm