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Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
Background: Intellectual disability (ID) is defined by cognitive and social adaptation defects. Variants in the SYNGAP1 gene, which encodes the brain-specific cytoplasmic protein SYNGAP1, are commonly associated with ID. The aim of this study was to identify novel SYNGAP1 gene variants in Chinese in...
Autores principales: | Li, Boxuan, Wang, Yu, Hou, Dong, Song, Zhen, Zhang, Lihua, Li, Na, Yang, Ruifang, Sun, Ping |
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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/PMC10622656/ https://www.ncbi.nlm.nih.gov/pubmed/37928246 http://dx.doi.org/10.3389/fgene.2023.1270175 |
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