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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L et al.
Ophthalmology, 2015
Novel CNGA3 mutations in Chinese patients with achromatopsia.
Liang X et al.
The British Journal of Ophthalmology, 2015
Achromatopsia caused by novel missense mutations in the CNGA3 gene.
Chen XT et al.
International Journal of Ophthalmology, 2015
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S et al.
European Journal of Human Genetics : Ejhg, 2005
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S et al.
Human Molecular Genetics, 2000
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