Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.I630N
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SYNGAP1

NM_006772.3:p.I630N

Associated Papers

Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database.

Scott MR et al.

Orphanet Journal of Rare Diseases, 2025

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

Wiltrout K et al.

Epilepsia, 2024

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

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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."