PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the galactosylceramidase (GALC) gene, located at chromosome 14q31, which encodes for the enzyme galactosylceramidase. Mutations at this locus have been identified in patients with Krabbe disease, characterized by low activity of the galactocerebrosidase (GALC) enzyme.
?: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/C3689792_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/C3689792_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all