Varaico: Literature-Extracted Genetic Variants

Gene:CNGB3
Variant:p.D513Y
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CNGB3

NM_019098.5:p.D513Y

Associated Papers

Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.

Gofman Y et al.

Plos Computational Biology, 2014

25474149 (PubMed )
Supplement: pcbi.1003976.s014.pdf

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM et al.

Human Mutation, 2005

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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."