Associated Papers
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Solaki M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
26407004 (PubMed )
Supplement: pone.0138943.s008.docx
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.s013.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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