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Phenotypes of GNAO1 Variants in a Chinese Cohort

This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six w...

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Detalles Bibliográficos
Autores principales: Yang, Xiaoling, Niu, Xueyang, Yang, Ying, Cheng, Miaomiao, Zhang, Jing, Chen, Jiaoyang, Yang, Zhixian, Zhang, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8193119/
https://www.ncbi.nlm.nih.gov/pubmed/34122306
http://dx.doi.org/10.3389/fneur.2021.662162

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