Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Y982*
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SYNGAP1

NM_006772.3:p.Y982*

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

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.

Creson TK et al.

Elife, 2019

31025938 (PubMed )
Supplement: elife-46752-supp3.xlsx › Table_S3
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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."