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...

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Detalles Bibliográficos
Autores principales: Li, Boxuan, Wang, Yu, Hou, Dong, Song, Zhen, Zhang, Lihua, Li, Na, Yang, Ruifang, Sun, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
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

Internet

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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