Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.P492S
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CACNA1H

NM_021098.3:p.P492S

Associated Papers

CACNA1H variants are not a cause of monogenic epilepsy.

Calhoun JD et al.

Human Mutation, 2020

Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.

Yalçın O

Seizure, 2012

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

Liang J et al.

Annals of Human Genetics, 2007

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

New variants in the CACNA1H gene identified in childhood absence epilepsy.

Liang J et al.

Neuroscience Letters, 2006

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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."