Varaico: Literature-Extracted Genetic Variants

Gene:CACNB4
Variant:p.L126P
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CACNB4

NM_000726.5:p.L126P

Associated Papers

Paroxysmal Movement Disorders.

Mahajan A

Continuum (minneapolis, Minn.), 2025

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

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Naseer MI et al.

Frontiers in Pediatrics, 2022

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G et al.

International Journal of Molecular Sciences, 2020

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

Coste de Bagneaux P et al.

Plos Genetics, 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."