GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

被引：0
|
作者：
Cediel, Lucia [1 ]
Stawarski, Michal [2 ]
Blanc, Xavier [1 ]
Noskova, Lenka [3 ,4 ]
Magner, Martin [3 ,4 ,5 ]
Platzer, Konrad [6 ]
Gburek-Augustat, Janina [6 ]
Baldridge, Dustin [7 ]
Constantino, John [7 ]
Ranza, Emmanuelle [1 ]
Bettler, Bernhard [2 ]
Antonarakis, Stylianos [1 ]
机构：
[1] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland
[2] Univ Basel, Dept Biomed, Pharmazentrum, Basel, Switzerland
[3] Charles Univ Prague, Prague, Czech Republic
[4] Gen Univ Hosp Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic
[5] Univ Thomayer Hosp Prague, Dept Paediat, Prague, Czech Republic
[6] Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany
[7] Washington Univ St Louis, St Louis, MO USA
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：
P10.024.C
引用
收藏
页码：477 / 477
页数：1
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