Varaico: Literature-Extracted Genetic Variants

Gene:CNGA3
Variant:p.R302W
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CNGA3

NM_001298.3:p.R302W

Associated Papers

Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.

Ding XQ et al.

Advances in Experimental Medicine and Biology, 2010

Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif.

Faillace MP et al.

The Journal of Biological Chemistry, 2004

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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."