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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ2

Variant:p.F202C

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KCNQ2

NM_172107.4:p.F202C

hg38:chr20:63444744 A>C

Associated Papers

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.

Edmond MA et al.

Elife, 2022

35642783 (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."