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
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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