PropertyValue
?:definition
  • 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.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C1704810_NCI>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C1704810_NCI>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all