Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.R573W
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SYNGAP1

NM_006772.3:p.R573W

Associated Papers

Sleep complaints in individuals with SYNGAP1-associated syndrome.

Mosini AC et al.

Sleep Medicine, 2025

Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.

Ali AE et al.

Briefings in Bioinformatics, 2024

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Ribeiro-Constante J et al.

Frontiers in Cell and Developmental Biology, 2024

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

VaRank: a simple and powerful tool for ranking genetic variants.

Geoffroy V et al.

Peerj, 2015

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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."