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Phenotypes in children with GNAO1 encephalopathy in China
BACKGROUND: The 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. METHODS: Ten patients with pathogenic variations in GNAO1 were...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495587/ https://www.ncbi.nlm.nih.gov/pubmed/37705601 http://dx.doi.org/10.3389/fped.2023.1086970 |