dgn-np:NP482179.RA53rnGbI1DHs-9uNyfV9Pun8Klp5drOOpjvBh-lSdDYw130_provenance {
  dgn-np:NP482179.RA53rnGbI1DHs-9uNyfV9Pun8Klp5drOOpjvBh-lSdDYw130_assertion dcterms:description "[Whereas hereditary hemochromatosis associated with HFE mutations is an autosomal recessive disorder, essentially all cases of hereditary hemochromatosis associated with ferroportin mutations follow an autosomal dominant pattern of inheritance, and most cases are notable for the lack of an elevated transferrin saturation and presence of iron deposition in Kupffer cells.]. 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:15727899 ;
    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 .
}