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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.C959*

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SCN1A

NM_001165963.4:p.C959*

hg38:chr2:166037845 A>T

Associated Papers

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Tan M et al.

Epilepsia, 2026

41642117 (PubMed )

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

33769100 (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."