@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .
dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_head {
  this: np:hasAssertion dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_assertion ;
    np:hasProvenance dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_provenance ;
    np:hasPublicationInfo dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_assertion a np:Assertion .
  dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_provenance a np:Provenance .
  dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_assertion {
  miriam-gene:675 a ncit:C16612 .
  lld:C0006142 a ncit:C7057 .
  dgn-gda:DGNf555e36be159349c96f1d2ef3ce94c75 sio:SIO_000628 miriam-gene:675 , lld:C0006142 ;
    a sio:SIO_001121 .
}
dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_provenance {
  dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_assertion dcterms:description "[Because of the high frequency of BRCA2 mutations in breast cancer families with at least one case of male breast cancer, we selected a cohort of 39 such families, tested negative for mutations in the coding regions of BRCA1 and BRCA2, and developed an assay for BRCA2 rearrangements, based on quantitative multiplex PCR of short fluorescent fragments (QMPSF).]. 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:15548676 ;
    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 .
}
dgn-np:NP469405.RAF8Bz8GHX5cbcz42mIlqA-S8I3hokxHxzHYajpoQkmXE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:17+02:00"^^xsd:dateTime ;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dcterms:rightsHolder dgn-void:IBIGroup ;
    dcterms:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
    pav:version "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}