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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.V1685F

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SCN2A

NM_001040142.2:p.V1685F

hg38:chr2:165388859 G>T

Associated Papers

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Gorman KM et al.

Brain Communications, 2021

34755109 (PubMed )

Supplement: fcab235_supplementary_data.zip › Revision_1.pdf

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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."