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- Q88406523 description "article scientifique publié en 2018" @default.
- Q88406523 description "artículu científicu espublizáu n'abril de 2018" @default.
- Q88406523 description "scientific article published on 19 April 2018" @default.
- Q88406523 description "wetenschappelijk artikel" @default.
- Q88406523 description "наукова стаття, опублікована у квітні 2018" @default.
- Q88406523 name "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 name "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 type Item @default.
- Q88406523 label "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 label "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 prefLabel "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 prefLabel "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 P1433 Q88406523-D893D5C2-A452-453D-B337-238BF7CAFFD1 @default.
- Q88406523 P1476 Q88406523-72D2BF1E-8B73-4870-9252-4305686A0AF0 @default.
- Q88406523 P2093 Q88406523-0BF58EEC-134E-4011-8701-C9E5BBADC42A @default.
- Q88406523 P2093 Q88406523-56630DC6-CB54-4428-A2D6-7D2F7B76311F @default.
- Q88406523 P2093 Q88406523-5C1BF4B4-7DD9-4D96-9E97-C9C434DE601D @default.
- Q88406523 P2093 Q88406523-9F5C0980-80C1-447E-A64D-BD8BA177EE80 @default.
- Q88406523 P304 Q88406523-0119DDE3-BD94-413A-A1AA-6ACD0279403F @default.
- Q88406523 P31 Q88406523-2F6F23A2-FF20-4828-B2EE-AA405D7A28CD @default.
- Q88406523 P356 Q88406523-89187B35-3967-46A9-ADE7-78C0E4BEBDFF @default.
- Q88406523 P433 Q88406523-FAD66237-DF75-4825-98A9-65B3C5D92162 @default.
- Q88406523 P478 Q88406523-89C31888-B189-49E0-8C91-F5C1BC82FB28 @default.
- Q88406523 P50 Q88406523-6717EA7E-3361-4425-9DB0-53C5510AF9EF @default.
- Q88406523 P50 Q88406523-83A7C3A5-F708-448E-BC9A-3E7142FAA60D @default.
- Q88406523 P577 Q88406523-40CA717D-3D49-4720-BD4F-1DFE53F306A1 @default.
- Q88406523 P698 Q88406523-D48EA216-8210-4106-8114-5011FE8BC362 @default.
- Q88406523 P356 CGE.13255 @default.
- Q88406523 P698 29671881 @default.
- Q88406523 P1433 Q5133760 @default.
- Q88406523 P1476 "A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects" @default.
- Q88406523 P2093 "D Antunes" @default.
- Q88406523 P2093 "J O'Sullivan" @default.
- Q88406523 P2093 "R T O'Keefe" @default.
- Q88406523 P2093 "S S Bhaskhar" @default.
- Q88406523 P304 "276-277" @default.
- Q88406523 P31 Q13442814 @default.
- Q88406523 P356 "10.1111/CGE.13255" @default.
- Q88406523 P433 "2" @default.
- Q88406523 P478 "94" @default.
- Q88406523 P50 Q38545164 @default.
- Q88406523 P50 Q87447829 @default.
- Q88406523 P577 "2018-04-19T00:00:00Z" @default.
- Q88406523 P698 "29671881" @default.