Associated Papers
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
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
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