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- Q92129967 description "article scientifique publié en 2019" @default.
- Q92129967 description "artículu científicu espublizáu en mayu de 2019" @default.
- Q92129967 description "scientific article published on 18 May 2019" @default.
- Q92129967 description "wetenschappelijk artikel" @default.
- Q92129967 description "наукова стаття, опублікована 18 травня 2019" @default.
- Q92129967 name "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 name "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 type Item @default.
- Q92129967 label "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 label "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 prefLabel "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 prefLabel "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
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- Q92129967 P356 Q92129967-848C1987-408E-4405-99C2-DE248667B71D @default.
- Q92129967 P433 Q92129967-DE039C83-0CF8-468D-B2B4-3C666B8B1543 @default.
- Q92129967 P478 Q92129967-4104131F-18E3-4462-BF0A-CA466B77A5C3 @default.
- Q92129967 P50 Q92129967-258AE293-2B95-4019-AC60-224FA5A02ADB @default.
- Q92129967 P50 Q92129967-28397E4B-A8D5-49B8-A501-AF2400C2924B @default.
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- Q92129967 P698 Q92129967-B349C745-041F-49A0-B6E2-986E6CFFE182 @default.
- Q92129967 P356 AJMG.A.61168 @default.
- Q92129967 P698 31102500 @default.
- Q92129967 P1433 Q4744254 @default.
- Q92129967 P1476 "A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia" @default.
- Q92129967 P2093 "Abdussalam Azem" @default.
- Q92129967 P2093 "Amit Kessel" @default.
- Q92129967 P2093 "Azhar Jabareen-Masri" @default.
- Q92129967 P2093 "Holger Hengel" @default.
- Q92129967 P2093 "Ludger Schöls" @default.
- Q92129967 P2093 "Muhammad Mahajnah" @default.
- Q92129967 P304 "1338-1345" @default.
- Q92129967 P31 Q13442814 @default.
- Q92129967 P356 "10.1002/AJMG.A.61168" @default.
- Q92129967 P433 "7" @default.
- Q92129967 P478 "179" @default.
- Q92129967 P50 Q81450305 @default.
- Q92129967 P50 Q87327656 @default.
- Q92129967 P577 "2019-05-18T00:00:00Z" @default.
- Q92129967 P698 "31102500" @default.