| 1 | PREPL, PREPLDI
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| Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency.
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| Sayol-Torres L, Valenzuela MI, Tomasini R, Fernández-Alvarez P, Clemente M, Yeste D.
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| J Clin Res Pediatr Endocrinol. May 29;15(2):205-209. doi: 10.4274/jcrpe.galenos.2021.2021.0128. Epub 2021 Oct 25 2023
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| 2 | PREPL, PREPLDI
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| Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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| Rosier K, McDevitt MT, Smet J, Floyd BJ, Verschoore M, Marcaida MJ, Bingman CA, Lemmens I, Dal Peraro M, Tavernier J, Cravatt BF, Gounko NV, Vints K, Monnens Y, Bhalla K, Aerts L, Rashan EH, Vanlander AV, Van Coster R, Régal L, Pagliarini DJ, Creemers JWM.
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| iScience. Nov 14;24(12):103460. doi: 10.1016/j.isci.2021.103460. 2021
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| 3 | PREPL, PREPLDI
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| PREPL deficiency: delineation of the phenotype and development of a functional blood assay
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| Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.
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| Genet Med. Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. 2018
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