Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1H
Variant:p.A598V
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CACNA1H

NM_021098.3:p.A598V

Associated Papers

De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.

Platzer K et al.

Annals of Neurology, 2022

CACNA1H variants are not a cause of monogenic epilepsy.

Calhoun JD et al.

Human Mutation, 2020

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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."