@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg> .
@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:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_head {
  this: np:hasAssertion dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_assertion;
    np:hasProvenance dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_provenance;
    np:hasPublicationInfo dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_assertion a np:Assertion .
  
  dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_provenance a np:Provenance .
  
  dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_assertion {
  miriam-gene:675 a ncit:C16612 .
  
  lld:C0029925 a ncit:C7057 .
  
  dgn-gda:DGN70aa23345de857db0b35f51e234e8b61 sio:SIO_000628 miriam-gene:675, lld:C0029925;
    a sio:SIO_001121 .
}

dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_provenance {
  dgn-np:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_assertion dcterms:description
      "[In conclusion, this study on alternative transcripts of the BRCA1 and BRCA2 genes revealed the presence of isoforms (prevalence of 15%) in blood samples from women with breast and ovarian cancer that were probably pathogenic, that were not detected by conventional methods of mutation screening based on direct sequencing of all coding regions, intron-exons junctions and MLPA analysis.]. 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:25683334;
    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:NP1263857.RA3B2iNsaD4Ehp1gaagTgbFwkc-es6Z4tOsT2PsbC7xBg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:19+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" .
}