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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1A

Variant:p.F1406C

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CACNA1A

NM_023035.3:p.F1406C

hg38:chr19:13261495 A>C

Associated Papers

Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.

Niu J et al.

Brain : a Journal of Neurology, 2026

41699918 (PubMed )

Episodic ataxias.

Jen JC et al.

Handbook of Clinical Neurology, 2018

29478597 (PubMed )

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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."