Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.P1352S
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CACNA1A

NM_001127222.2:p.P1352S

Associated Papers

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Granath K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40326640 (PubMed )
Supplement: MDS-40-1851-s002.docx

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.

Lance S et al.

Case Reports in Neurological Medicine, 2018

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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."