Associated Papers
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
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 › S9_PS1_PM5.xlsx › Missense
Effect of retinol dehydrogenase gene transfer in a novel rat model of Stargardt disease.
Cronin T et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 5._Gnomad-all_variants
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Molday RS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.
Biswas-Fiss EE
Biochemistry, 2003
Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease.
Sun H et al.
Journal of Bioenergetics and Biomembranes, 2001
Biochemical defects in ABCR protein variants associated with human retinopathies.
Sun H et al.
Nature Genetics, 2000
Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
Stenirri S et al.
European Journal of Ophthalmology, 0
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