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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...
Autores principales: | Yang, Xiaoling, Niu, Xueyang, Yang, Ying, Cheng, Miaomiao, Zhang, Jing, Chen, Jiaoyang, Yang, Zhixian, Zhang, Yuehua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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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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