PropertyValue
?:definition
  • Molecular assay reagents intended to identify gene variants associated with pontocerebellar hypoplasia, a collection of brain malformations in which a part of the brainstem (the pons) and the cerebellum are underdeveloped. Genetic variants at multiple loci have been associated with pontocerebellar hypoplasia. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple pontocerebellar hypoplasia-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/C4286263_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/C4286263_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all