Open access
Aug 2026
In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs
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 extracyto...
Jazzlyn S. Jones, Barry Bodt, Subhasis B. Biswas et al.
· Research Square · 0 citations