PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions or duplications in genes associated with dyskeratosis congenita, a condition involving defective telomeres that leads to nail dystrophy, changes in skin color, and oral leukoplakia (i.e., white patches on the oral mucosa). Genetic variants at multiple loci have been associated with dyskeratosis congenita. These reagents are intended to detect deletions and duplications in multiple dyskeratosis congenita-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/C4286403_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/C4286403_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all