Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.R854_S859delFs
Back to variants list

SYNGAP1

NM_006772.3:p.R854_S859delFs

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

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Tang S et al.

Epilepsia, 2020

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Jimenez-Gomez A et al.

Journal of Neurodevelopmental Disorders, 2019

31395010 (PubMed )
Supplement: 11689_2019_9276_MOESM1_ESM.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."