Associated Papers
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1
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 › S2_PVS1.xlsx › Nonsense_or_Frameshift
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
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