Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.R383*
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CACNA1B

NM_000718.4:p.R383*

Associated Papers

Clinical features and genetic analysis of developmental and epileptic encephalopathy caused by biallelic variants of CACNA1B.

Yu XY et al.

Heliyon, 2024

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Mayo S et al.

International Journal of Molecular Sciences, 2023

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM et al.

American Journal of Human Genetics, 2019

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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."