Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.V1078fs
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SYNGAP1

NM_006772.3:p.V1078fs

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

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

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Twenty Years of SynGAP Research: From Synapses to Cognition.

Gamache TR et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

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