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- B1f2da308d911339e540c99d615353aa4 NCIT_P378 "NCI" @default.
- B1f2da308d911339e540c99d615353aa4 NCIT_P381 "SwissProt" @default.
- B1f2da308d911339e540c99d615353aa4 type Axiom @default.
- B1f2da308d911339e540c99d615353aa4 annotatedProperty IAO_0000115 @default.
- B1f2da308d911339e540c99d615353aa4 annotatedSource NCIT_C52453 @default.
- B1f2da308d911339e540c99d615353aa4 annotatedTarget "Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes collagen alpha-1 (I) chain protein, is involved in both the development and maintenance of tendon, ligaments and bones. Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types. In cases of dermatofibrosarcoma protuberans the gene is involved in a translocation t(17;22)(q22;q13) with the PDGF gene." @default.