Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R1573P
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CACNA1H

NM_021098.3:p.R1573P

Associated Papers

The Cacna1h mutation in the GAERS model of absence epilepsy enhances T-type Ca2+ currents by altering calnexin-dependent trafficking of Cav3.2 channels.

Proft J et al.

Scientific Reports, 2017

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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."