Open access
Aug 2026
In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs
This integrative computational framework identifies four conserved motifs likely critical to ECD2 and ABCA4 function, and yields a prioritized, mechanistically grounded list of ECD2 variants for targeted experimental validation.
Jazzlyn S. Jones, Barry Bodt, Subhasis B. Biswas et al.
· Research Square · 0 citations