PropertyValue
?:definition
  • Molecular assay reagents intended to identify genetic variants associated with rhizomelic chondrodysplasia punctata, a peroxisomal disorder characterized by skeletal abnormalities, abnormal facial features, intellectual disability, and respiratory problems. Genetic variants at multiple loci have been associated with rhizomelic chondrodysplasia punctata. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple rhizomelic chondrodysplasia punctata-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/C4286361_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/C4286361_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all