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
40448196 (PubMed )
Supplement: 13023_2025_3792_MOESM1_ESM.pdf
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
Retinal structure and function in achromatopsia: implications for gene therapy.
Sundaram V et al.
Ophthalmology, 2014
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