@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg> .
@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:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_head {
   this: np:hasAssertion dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_assertion ;
    np:hasProvenance dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_provenance ;
    np:hasPublicationInfo dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_assertion a np:Assertion .
  dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_provenance a np:Provenance .
  dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_assertion {
   miriam-gene:5728 a ncit:C16612 .
  lld:C0678222 a ncit:C7057 .
  dgn-gda:DGN6247df6b3e140b8cfab8c3b170dc04b2 sio:SIO_000628 miriam-gene:5728 , lld:C0678222 ;
    a sio:SIO_001122 .
}
dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_provenance {
   dgn-np:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_assertion dcterms:description "[To identify the disease-causing mutations in a cohort of 120 Brazilian women fulfilling criteria for HBOC, we carried out a comprehensive screening of BRCA1/2, TP53 R337H, CHEK2 1100delC, followed by an analysis of copy number variations in 14 additional breast cancer susceptibility genes (PTEN, ATM, NBN, RAD50, RAD51, BRIP1, PALB2, MLH1, MSH2, MSH6, TP53, CDKN2A, CDH1 and CTNNB1).]. 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:24884479 ;
    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:NP1187340.RAFX6zZt3hQZaUeO4gxqvkWWtwRmyfnFw-Igf4qzTo5Fg130_publicationInfo {
   this: dcterms:created "2016-05-13T12:50:44+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" .
}