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

页码：477 / 477

页数：1

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