BioinformaticsbioRxivPreprint
Extreme conservation and rare evolutionary deviations in mammalian NOTCH3 inform the interpretation of CADASIL pathogenicity
Khawar Sohail Siddiqui, Haluk Ertan, Yi Ren…·Perminder S. Sachdev
The paper identifies rare NOTCH3 sequence variations across mammals and evaluates their structural and functional implications for CADASIL pathogenicity.
DOI 10.1101/2025.09.28.678708