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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C52453> ?p ?o ?g. }

• NCIT_C52453 IAO_0000115 "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.
• NCIT_C52453 NCIT_NHC0 "C52453" @default.
• NCIT_C52453 NCIT_P100 "120150" @default.
• NCIT_C52453 NCIT_P102 "NM_000088" @default.
• NCIT_C52453 NCIT_P106 "Gene or Genome" @default.
• NCIT_C52453 NCIT_P107 "COL1A1 wt Allele" @default.
• NCIT_C52453 NCIT_P108 "COL1A1 wt Allele" @default.
• NCIT_C52453 NCIT_P207 "C1704810" @default.
• NCIT_C52453 NCIT_P211 "collagen type I" @default.
• NCIT_C52453 NCIT_P211 "epidermal differentiation" @default.
• NCIT_C52453 NCIT_P211 "skeletal development" @default.
• NCIT_C52453 NCIT_P211 "structural constituent of bone" @default.
• NCIT_C52453 NCIT_P321 "1277" @default.
• NCIT_C52453 NCIT_P322 "CTRP" @default.
• NCIT_C52453 NCIT_P366 "COL1A1_wt_Allele" @default.
• NCIT_C52453 NCIT_P96 "Collagen I (Alpha 1)" @default.
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• NCIT_C52453 NCIT_R40 NCIT_C29964 @default.
• NCIT_C52453 NCIT_R40 NCIT_C32221 @default.
• NCIT_C52453 NCIT_R40 NCIT_C34070 @default.
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• NCIT_C52453 NCIT_R41 NCIT_C14262 @default.
• NCIT_C52453 NCIT_R41 NCIT_C14282 @default.
• NCIT_C52453 NCIT_R41 NCIT_C25796 @default.
• NCIT_C52453 NCIT_R41 NCIT_C79740 @default.
• NCIT_C52453 normalizedInformationContent "100" @default.
• NCIT_C52453 referenceCount "1" @default.
• NCIT_C52453 hasExactSynonym "COL1A1 wt Allele" @default.
• NCIT_C52453 hasExactSynonym "Collagen Type I Alpha 1 Chain wt Allele" @default.
• NCIT_C52453 hasExactSynonym "Collagen, Type I, Alpha 1 Gene" @default.

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