dgn-np:NP3036.RAioxHmh84q-JMz29EVYTAmjZ-gOTOdETd8oT9F57bhGk130_provenance {
  dgn-np:NP3036.RAioxHmh84q-JMz29EVYTAmjZ-gOTOdETd8oT9F57bhGk130_assertion dcterms:description "[This mechanism may provide a model for phenotype modulation by minor variations in the expression of the wild-type allele in the other three autosomal dominant porphyrias that exhibit incomplete penetrance: acute intermittent porphyria (AIP), variegata porphyria (VP) and hereditary coproporphyria (HC), which are caused by partial deficiencies of hydroxy-methyl bilane synthase (HMBS), protoporphyrinogen oxidase (PPOX) and coproporphyrinogen oxidase (CPO), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:14669009 ;
    prov:wasDerivedFrom dgn-void:uniprot-20130724 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}