PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions or duplications of the SPG11, spatacsin vesicle trafficking associated (SPG11) gene, located at chromosome 15q21.1, which encodes the protein spatacsin. Genetic variants at this locus have been associated with amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, and spastic paraplegia.
?: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/C4287017_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/C4287017_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all