Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes
Hasan Çubuk, Vahid Aslanzadeh, Yifei Shang, Marcin Plech, Ankit Pathak, Grzegorz R. Kudla, Joseph A. Marsh
The paper uses deep mutational scanning to distinguish disease mechanisms in ERCC2 variants, finding that TTD variants have lower fitness than XP variants.
bioRxiv · Sep 27, 2026 · PreprintGenetics