Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.S604L
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SYNGAP1

NM_006772.3:p.S604L

Associated Papers

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

Ali AE et al.

Briefings in Bioinformatics, 2024

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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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."