dgn-np:NP1308822.RAm6VaCOTFxv_Zb8kUfB1nGdSl5Mn7tOFHc1i3LDEZBj4130_provenance {
  dgn-np:NP1308822.RAm6VaCOTFxv_Zb8kUfB1nGdSl5Mn7tOFHc1i3LDEZBj4130_assertion dcterms:description "[More than half of all patients with familial or recurring venous thrombosis have hereditary resistance to activated protein C (HRAPC) as the result of specific missense mutation in the gene for coagulation factor V. Because the mutant factor Va (with an Arg to Gln substitution at codon 506) cannot be cleaved and inactivated by activated protein C, carriers of this mutation are at significantly increased risk of venous thrombosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:7493138 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}