Article

In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs

2026-08-25

Abstract excerpt

<title>Abstract</title> <p>Background: ABCA4 variants are the primary cause of Stargardt disease and also contribute to other inherited retinal disorders. Despite this central role, nearly half of all ABCA4 missense variants remain classified as variants of uncertain significance (VUS), limiting genetic diagnosis for many patients. The extracytoplasmic domain 2 (ECD2) harbors a disproportionate share of these un...

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Literature Corpus work: e5574748-8050-57f5-8ae9-504394270d20
DOI: 10.21203/rs.3.rs-10349982/v1

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