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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.L215_R219del0

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SCN1A

NM_001165963.4:p.L215_R219del0

hg38:chr2:166052890 CTGAATGTTCTCA>C

Associated Papers

Characteristic spatial and frequency distribution of mutations in SCN1A.

Zhang M et al.

Acta Epileptologica, 2024

40217529 (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."