@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs> .
@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:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_head {
  this: np:hasAssertion dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_assertion ;
    np:hasProvenance dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_provenance ;
    np:hasPublicationInfo dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_assertion a np:Assertion .
  dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_provenance a np:Provenance .
  dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_assertion {
  miriam-gene:672 a ncit:C16612 .
  lld:C1140680 a ncit:C7057 .
  dgn-gda:DGN645db0f0564612a45b81e58b090bfb90 sio:SIO_000628 miriam-gene:672 , lld:C1140680 ;
    a sio:SIO_001121 .
}
dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_provenance {
  dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_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 .
}
dgn-np:NP398722.RAshN7f-RXAHMiHqkjyuOC-SFNxSJyZdxmv3SV00wdnLs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:46+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" .
}