Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.F1370L
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CACNA1A

NM_000068.4:p.F1370L

Associated Papers

Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.

Self J et al.

Eye (london, England), 2009

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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."