PropertyValue
?:definition
  • Molecular assay reagents intended to identify variants in the COL1A1 and COL1A2 genes, which are associated with osteogenesis imperfecta, a bone disorder caused by defects in collagen and characterized by easily fractured bones. Genetic variants in both COL1A1 and COL1A2 have been associated with osteogenesis imperfecta. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in COL1A1 and COL1A2 simultaneously.
?: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/C4286161_UMD>
<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/C4286161_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all