Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Y1219*
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SYNGAP1

NM_006772.3:p.Y1219*

Associated Papers

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

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

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM et al.

Neurology, 2019

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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."