PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in genes associated with Stickler syndrome, a multisystem disorder that causes vision, hearing, and joint problems and is characterized by distinctive facial appearance related to abnormal development of bones in the middle of the face. Genetic variants at multiple loci have been associated with Stickler syndrome. These reagents are intended to detect mutations in multiple Stickler syndrome-associated loci 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/C4286475_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/C4286475_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all