Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1F
Variant:p.R82P
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CACNA1F

NM_001256789.3:p.R82P

Associated Papers

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C et al.

Human Mutation, 2019

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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."