Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.S195A
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KCNQ2

NM_172107.4:p.S195A

Associated Papers

Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

Soldovieri MV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

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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."