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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYNGAP1

Variant:p.L1241V

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SYNGAP1

NM_006772.3:p.L1241V

hg38:chr6:33446713 C>G

Associated Papers

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Tang S et al.

Epilepsia, 2020

32469098 (PubMed )

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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."