Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.C287R
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CACNA1A

NM_001127222.2:p.C287R

Associated Papers

Neuro-Ophthalmological Manifestations of Episodic Ataxia Type 2 Due to a Novel CACNA1A Mutation.

Asad M et al.

Movement Disorders Clinical Practice, 2025

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Radziwonik W et al.

Journal of Applied Genetics, 2022

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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."