Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.S195C
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KCNQ2

NM_172107.4:p.S195C

Associated Papers

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

Edmond MA et al.

Elife, 2022

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.

Xiao T et al.

Frontiers in Molecular Neuroscience, 2022

Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain.

Gourgy-Hacohen O et al.

The Journal of General Physiology, 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."