Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.T153fs
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SYNGAP1

NM_006772.3:p.T153fs

Associated Papers

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Krygier M et al.

Frontiers in Genetics, 2023

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."