dgn-np:NP42597.RAAyNWnntuuq-UFy_TLzY8gvFA19FnWrjxcVCvKWN7ZS0130_provenance {
  dgn-np:NP42597.RAAyNWnntuuq-UFy_TLzY8gvFA19FnWrjxcVCvKWN7ZS0130_assertion dcterms:description "[We describe for the first time a homozygous HFE splice site mutation (IVS5 G/A) in a non-Caucasian patient with hereditary hemochromatosis. Although the absence of this novel HFE gene mutation in Caucasian subjects suggests that the mutation is exclusive to this family, mutation screening in populations of different ethnic background is recommended to precisely define its contribution to hereditary hemochromatosis in non-Caucasian patients.]. 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:11875012 ;
    prov:wasDerivedFrom dgn-void:gad-20130706 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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 .
}