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
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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