Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7b1ea447a1b5be6bcacd672718c6c24f> ?p ?o ?g. }
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- B7b1ea447a1b5be6bcacd672718c6c24f NCIT_P378 "NCI" @default.
- B7b1ea447a1b5be6bcacd672718c6c24f NCIT_P381 "SwissProt" @default.
- B7b1ea447a1b5be6bcacd672718c6c24f type Axiom @default.
- B7b1ea447a1b5be6bcacd672718c6c24f annotatedProperty IAO_0000115 @default.
- B7b1ea447a1b5be6bcacd672718c6c24f annotatedSource NCIT_C52453 @default.
- B7b1ea447a1b5be6bcacd672718c6c24f 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.