Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability

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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Bibliographic Details
Main Authors: Boxuan Li, Yu Wang, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Genetics
Subjects:
SYNGAP1
whole exome sequencing (WES)
intellectual disability
minigene
variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1270175/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1270175/full

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