PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in genes associated with Hirschsprung disease, a disorder characterized by the failure of enteric nerves to develop properly leading to loss of intestinal peristalsis. Genetic variants at multiple loci have been associated with Hirschsprung disease. These reagents are intended to detect mutations in multiple Hirschsprung disease-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/C4286769_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/C4286769_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all