Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfd2689d688e11a6b53f01d1415bf8cc1> ?p ?o ?g. }
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- Bfd2689d688e11a6b53f01d1415bf8cc1 NCIT_P378 "NCI" @default.
- Bfd2689d688e11a6b53f01d1415bf8cc1 NCIT_P381 "Entrez Gene" @default.
- Bfd2689d688e11a6b53f01d1415bf8cc1 type Axiom @default.
- Bfd2689d688e11a6b53f01d1415bf8cc1 annotatedProperty IAO_0000115 @default.
- Bfd2689d688e11a6b53f01d1415bf8cc1 annotatedSource NCIT_C52480 @default.
- Bfd2689d688e11a6b53f01d1415bf8cc1 annotatedTarget "Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. This allele, which encodes collagen alpha-2 (I) chain protein, plays a role in the structural integrity of tendons, ligaments and bones. Mutations in the gene are associated with atypical Marfan syndrome, Ehlers-Danlos syndrome types and osteogenesis imperfecta types." @default.