Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.A2208V
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CACNA1H

NM_021098.3:p.A2208V

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Coll M et al.

Plos One, 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."