Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.C108S
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KCNF1

NM_002236.5:p.C108S

Associated Papers

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Bartos DC et al.

Heart Rhythm, 2014

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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."