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[A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Shen Yue, Luo Guanjun, Lu Chao, Tan Yuan, Cheng Tingting, Qian Xuguang, Li Nuo, Luo Minna, Cao Zongfu, Ma Xu, Zhao Yong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing. RESULTS: The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic....

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PMID: 36585002
DOI: 10.3760/cma.j.cn511374-20220120-00047

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