Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.W572S
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SYNGAP1

NM_006772.3:p.W572S

Associated Papers

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

Ali AE et al.

Briefings in Bioinformatics, 2024

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.

Wiltrout K et al.

Epilepsia, 2024

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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."