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
Functional characterization of ABCA4 genetic variants related to Stargardt disease.
Kim BM et al.
Scientific Reports, 2022
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Kim MS et al.
Journal of Korean Medical Science, 2019
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Joo K et al.
Molecular Vision, 2019
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