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Phenotypes in children with GNAO1 encephalopathy in China

BackgroundThe GNAO1 gene encodes the α-subunit (Gαo) of the heterotrimeric guanine nucleotide-binding protein (G protein). The aim of this study was to explore the clinical characteristics of patients with GNAO1 pathogenic variations.MethodsTen patients with pathogenic variations in GNAO1 were enrol...

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Autors principals: Yanmei Li, Hong Chen, Lin Li, Xueyan Cao, Xin Ding, Li Chen, Dezhi Cao
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2023-08-01
Col·lecció:Frontiers in Pediatrics
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Accés en línia:https://www.frontiersin.org/articles/10.3389/fped.2023.1086970/full
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