Varaico: Literature-Extracted Genetic Variants

Gene:CACNB4
Variant:p.R220H
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CACNB4

NM_000726.5:p.R220H

Associated Papers

Multiomics analysis unveils the cellular ecosystem with clinical relevance in aldosterone-producing adenomas with KCNJ5 mutations.

Yokomoto-Umakoshi M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40009643 (PubMed )
Supplement: pnas.2421489122.sapp.pdf

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

Lee CG et al.

Plos One, 2018

29924869 (PubMed )
Supplement: pone.0199321.s001.docx

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 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."