Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.Y248N
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CACNA1A

NM_001127222.2:p.Y248N

Associated Papers

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.

Martínez-Monseny AF et al.

International Journal of Molecular Sciences, 2021

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Jaudon F et al.

Biomedicines, 2020

Genetic Variants Associated with Episodic Ataxia in Korea.

Choi KD et al.

Scientific Reports, 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."