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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...

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Principais autores: Boxuan Li, Yu Wang, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-10-01
coleção:Frontiers in Genetics
Assuntos:
SYNGAP1
whole exome sequencing (WES)
intellectual disability
minigene
variant
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2023.1270175/full
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