PropertyValue
?:definition
  • Molecular assay reagents intended to identify genetic variants associated with the multisystem disorder CHARGE syndrome (i.e., coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality). Genetic variants at multiple loci have been associated with CHARGE syndrome. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple CHARGE 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/C4286480_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/C4286480_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all