Pathogenic impact of ABCA4 missense variants in the structurally uncharacterized ECD1 region: implications for Stargardt disease.
Nadee N. J. Matarage Don, Subhasis B. Biswas, Esther E. Biswas
The paper evaluates the pathogenicity of ABCA4 missense variants in the uncharacterized ECD1 region using in silico and in vitro methods, identifying variants that disrupt protein stability and function.
bioRxiv · Jul 1, 2026 · PreprintGenetics