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

Twenty Years of SynGAP Research: From Synapses to Cognition.

Gamache TR et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Jimenez-Gomez A et al.

Journal of Neurodevelopmental Disorders, 2019

31395010 (PubMed )
Supplement: 11689_2019_9276_MOESM1_ESM.xlsx › Sheet1

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

Pei Y et al.

Fetal and Pediatric Pathology, 2018

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Mignot C et al.

Journal of Medical Genetics, 2016

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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."