PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions or duplications of the ryanodine receptor 1 (RYR1) gene, located at chromosome 19q13.2, which encodes the protein ryanodine receptor 1. Genetic variants at this locus have been associated with central core disease, congenital myopathy with fiber type disproportion, minicore myopathy with external ophthalmoplegia, statin-induced myopathy, and susceptibility to malignant hyperthermia.
?: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/C4286866_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/C4286866_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all