Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.E228K
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CFP

NM_001145252.3:p.E228K

Associated Papers

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Reuter P et al.

Human Mutation, 2008

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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."