Associated Papers
Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives.
Jones JS et al.
Advances in Experimental Medicine and Biology, 2025
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
37331482 (PubMed )
Supplement: mmc1.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 › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare
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