Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.W572R
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SYNGAP1

NM_006772.3:p.W572R

Associated Papers

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.

Lamilla J et al.

Diagnostics (basel, Switzerland), 2025

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

Ali AE et al.

Briefings in Bioinformatics, 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."