Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.C576R
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SYNGAP1

NM_006772.3:p.C576R

Associated Papers

Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.

Zhao X et al.

Epilepsy & Behavior : E&b, 2024

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Ribeiro-Constante J et al.

Frontiers in Cell and Developmental Biology, 2024

SYNGAP1-DEE: A visual sensitive epilepsy.

Lo Barco T et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2021

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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."