PropertyValue
?:definition
  • Molecular assay reagents intended to identify gene variants associated with Emery-Dreifuss syndrome, a form of muscular dystrophy affecting skeletal and cardiac muscles and characterized by contractures, a tightening of joints that can lead to joint rigidity and/or deformity. Genetic variants at multiple loci have been associated with Emery-Dreifuss syndrome. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple Emery-Dreifuss 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/C4286778_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/C4286778_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all