PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the ribonucleotide reductase regulatory TP53 inducible subunit M2B (RRM2B) gene, located at chromosome 8q22.3, which encodes the protein ribonucleoside-diphosphate reductase subunit M2 B. Genetic variants at this locus have been associated with autosomal dominant progressive external ophthalmoplegia with progressive external ophthalmoplegia with mitochondrial DNA deletions and mitochondrial DNA depletion syndrome.
?: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/C4286957_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/C4286957_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all