Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.R439C
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CACNA1H

NM_021098.3:p.R439C

Associated Papers

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.

Al-Hamed MH et al.

Human Mutation, 2022

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Landoulsi Z et al.

Neurogenetics, 2018

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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."