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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN9A

Variant:p.S226F

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SCN9A

NM_001365536.1:p.S226F

hg38:chr2:166304249 G>A

Associated Papers

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG et al.

Neurology, 2017

28794249 (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."