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| Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109 |
| Author(s) : Regal L , Martensson 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 , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM |
| Ref : Genet Med , 20 :109 , 2018 |
| Abstract : Regal_2018_Genet.Med_20_109 |
| ESTHER : Regal_2018_Genet.Med_20_109 |
| PubMedSearch : Regal_2018_Genet.Med_20_109 |
| PubMedID: 28726805 |
| Gene_locus related to this paper: human-PREPL |