Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R1585C
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CACNA1H

NM_021098.3:p.R1585C

Associated Papers

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.

Witkowski G et al.

International Journal of Molecular Sciences, 2024

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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."