Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.P1352_L1353insFs
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CACNA1A

NM_001127222.2:p.P1352_L1353insFs

Associated Papers

A Review of the CACNA Gene Family: Its Role in Neurological Disorders.

Szymanowicz O et al.

Diseases (basel, Switzerland), 2024

Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia.

Stampfl B et al.

Case Reports in Neurological Medicine, 2021

Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome.

Fuerte-Hortigón A et al.

Journal of the Neurological Sciences, 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."