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
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
Retinal miRNAs variations in a large cohort of inherited retinal disease.
Huang XF et al.
Ophthalmic Genetics, 2018
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
Li FF et al.
Journal of Translational Medicine, 2015
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