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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.S213W

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SCN1A

NM_001165963.4:p.S213W

hg38:chr2:166052908 G>C

Associated Papers

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

33013363 (PubMed )

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM et al.

Pediatric Neurology, 2017

29056246 (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."