sub:provenance {
  sub:assertion dcterms:description "[Our results for 2 Bloom's syndrome (BS) patients showed that variants either lost expression of one allele (simple gene inactivation or loss) or expressed only one allele at twice the normal level (most probably somatic recombination) occurring at a frequency of about 1-3 per 10(3) erythrocytes.]. 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:2677702 ;
    prov:wasDerivedFrom dgn-void:BEFREE ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}