Missense Variants in CMS22 Patients Reveal That PREPL Has Both Enzymatic and Non-Enzymatic Functions
Yenthe Monnens, Anastasia Theodoropoulou,Karen Rosier,Kritika Bhalla, Alexia Mahy,Roeland Vanhoutte,Sandra Meulemans, Edoardo Cavani,Aleksandar Antanasijevic,Irma Lemmens,Jennifer A. Lee,Catherine J. Spellicy,Richard J. Schroer,Ricardo A. Maselli,Chamindra G. Laverty,Patrizia Agostinis,David J. Pagliarini,Steven Verhelst,Maria J. Marcaida,Anne Rochtus,Matteo Dal Peraro,John W. M. Creemers JCI Insight（2024）
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