Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.V65M
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CS

NM_004077.3:p.V65M

Associated Papers

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome.

York NW et al.

Jci Insight, 2020

Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.

Houtman MJC et al.

Journal of Cellular and Molecular Medicine, 2019

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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."