De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy

被引：0
|
作者：
Kanani, F. [1 ]
Titheradge, H. [2 ]
Cooper, N. [2 ]
Elmslie, F. [3 ]
Lees, M. [4 ]
Juusola, J. [5 ]
Pisani, L.
Mignot, C.
Valence, S.
Keren, B.
Guella, I.
Balasubramanian, M. [1 ]
机构：
[1] Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
[2] Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England
[3] St George Hosp, South West Thames Reg Genet Serv, London, England
[4] Great Ormond St Hosp Sick Children, North East Reg Genet Serv, London, England
[5] GeneDx, Clin Genom & Res Programs, Gaithersburg, MD USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.127B
引用
收藏
页码：1471 / 1472
页数：2
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