RJ Hack, G Gravesteijn, MN Cerfontaine, MA Santcroos… - Brain, 2023 - academic.oup.com
Cysteine-altering missense variants (NOTCH3 cys) in one of the 34 epidermal growth-factor-
like repeat (EGFr) domains of the NOTCH3 protein are the cause of NOTCH3-associated …