Associated Papers
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.
Rawnsley K et al.
The Journal of Pathology, 2025
40304364 (PubMed )
Supplement: PATH-266-322-s001.xlsx › Table_S2
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Oh JK et al.
American Journal of Ophthalmology, 2020
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK et al.
Human Mutation, 2017
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
Greenberg JP et al.
Jama Ophthalmology, 2014
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