dgn-np:NP398721.RAz0AhhQCK0hfcTN6jh57r0KYcXo504PfqmXkRWqRMQyE130_provenance {
  dgn-np:NP398721.RAz0AhhQCK0hfcTN6jh57r0KYcXo504PfqmXkRWqRMQyE130_assertion dcterms:description "[To detect large deletions or duplications encompassing one or more exons of the BRCA1 gene and in order to estimate the frequency of BRCA1 rearrangements in German breast or ovarian cancer families, a semi-quantitative multiplex PCR method was developed and applied to DNA samples of patients from families negatively tested for disease causing mutations in the BRCA1 and BRCA2 coding regions by direct sequencing.]. 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:12815601 ;
    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 .
}