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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1A

Variant:p.F1394delFs

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CACNA1A

NM_023035.3:p.F1394delFs

hg38:chr19:13261529 CG>C

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

34068417 (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."