Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.L813fs
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SYNGAP1

NM_006772.3:p.L813fs

Associated Papers

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

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

Gibson KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL et al.

Nature Genetics, 2013

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Hamdan FF et al.

Biological Psychiatry, 2011

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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."