PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the peroxisomal biogenesis factor 6 (PEX6) gene, located at chromosome 6p21.1, which encodes for a protein involved in import of peroxisomal matrix proteins. Mutations at this locus have been identified in patients with Zellweger syndrome (ZS), infantile Refsum disease (IRD), neonatal adrenoleukodystrophy (NALD), and classic rhizomelic chondrodysplasia punctata.
?: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/C3689673_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/C3689673_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all