Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.S258R
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KCNQ3

NM_004519.4:p.S258R

Associated Papers

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Chokvithaya S et al.

Scientific Reports, 2023

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

Schenzer A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

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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."