Associated Papers
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Corradi Z et al.
International Journal of Molecular Sciences, 2024
38892127 (PubMed )
Supplement: ijms-25-05940-s001.zip › Tables.pdf
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S1_ACMG_Categorisation.xlsx › Overview_S1
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM et al.
Genes, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M et al.
Human Mutation, 2019
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