Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.R170Splc
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SYNGAP1

NM_006772.3:p.R170Splc

Associated Papers

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.

Xie W et al.

Molecular Genetics & Genomic Medicine, 2025

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].

Wang XL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations.

Wang Y et al.

Frontiers in Genetics, 2022

Phenotypes in Children With SYNGAP1 Encephalopathy in China.

Zhang H et al.

Frontiers in Neuroscience, 2021

Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.

Pei Y et al.

Fetal and Pediatric Pathology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."