dgn-np:NP556704.RAnuxfmHB_3ou0e0JqidOM-7fpk310_Cw0T0vYpkwnTJM130_provenance {
  dgn-np:NP556704.RAnuxfmHB_3ou0e0JqidOM-7fpk310_Cw0T0vYpkwnTJM130_assertion dcterms:description "[The likelihood of a missense mutation causing hemophilia B depends on whether the residue is also conserved in the factor IX-related proteases: factor VII, factor X, and protein C. Most of the possible missense mutations in generically conserved residues (i.e., those conserved in factor IX and in all the related proteases) should cause disease.]. 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:1680287 ;
    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 .
}