GeneticsbioRxivPreprint
Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions
Yenthe Monnens, Anastasia Theodoropoulou, Karen Rosier…·John W.M. Creemers
The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.
DOI 10.1101/2023.12.18.572145