Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Q1064*
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SYNGAP1

NM_006772.3:p.Q1064*

Associated Papers

RNA-based translation activators for targeted gene upregulation.

Cao Y et al.

Nature Communications, 2023

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

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

Creson TK et al.

Elife, 2019

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E et al.

Clinical Genetics, 2018

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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."