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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ1

Variant:p.N112K

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KCNQ1

NM_000218.3:p.N112K

hg38:chr11:2445434 C>A

Associated Papers

Differential roles of S6 domain hinges in the gating of KCNQ potassium channels.

Seebohm G et al.

Biophysical Journal, 2006

16326905 (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."