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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.V1778L

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SCN1A

NM_001165963.4:p.V1778L

hg38:chr2:165991943 C>G

Associated Papers

Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.

Rampazzo ACM et al.

Neurogenetics, 2021

33937968 (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."