Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.L595fs
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SYNGAP1

NM_006772.3:p.L595fs

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Ribeiro-Constante J et al.

Frontiers in Cell and Developmental Biology, 2024

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

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
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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."