PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions or duplications of the RPE65, retinoid isomerohydrolase (RPE65) gene, located at chromosome 1p31.3, which encodes the protein retinoid isomerohydrolase. Genetic variants at this locus have been associated with Leber congenital amaurosis and retinitis pigmentosa.
?: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/C4286865_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/C4286865_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all