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 › S1_ACMG_Categorisation.xlsx › Overview_S1
Interaction of the nucleotide binding domains and regulation of the ATPase activity of the human retina specific ABC transporter, ABCR.
Biswas-Fiss EE
Biochemistry, 2006
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