YWHAG基因中的一种新型变异进一步支持了发育性和癫痫性脑病的表型。 - Suppr

A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.

作者信息

Sedláčková Lucie, Štěrbová Katalin, Vlčková Markéta, Maulisová Alice, Laššuthová Petra

机构信息

Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

出版信息

Am J Med Genet A. 2021 May;185(5):1363-1365. doi: 10.1002/ajmg.a.62116. Epub 2021 Feb 15.

DOI:10.1002/ajmg.a.62116

PMID:33590706

Abstract

摘要

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A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.

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