@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_head {
  this: np:hasAssertion dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion;
    np:hasProvenance dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance;
    np:hasPublicationInfo dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion a np:Assertion .
  
  dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance a np:Provenance .
  
  dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion {
  miriam-gene:4436 a ncit:C16612 .
  
  lld:C0013080 a ncit:C7057 .
  
  dgn-gda:DGN8e4c94151c5b3e4e71ab9fa23521bfc8 sio:SIO_000628 miriam-gene:4436, lld:C0013080;
    a sio:SIO_001121 .
}

dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_provenance {
  dgn-np:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_assertion dcterms:description
      "[Applications shown of this multiplex ligation-dependent probe amplification (MLPA) technique include the detection of exon deletions and duplications in the human BRCA1, MSH2 and MLH1 genes, detection of trisomies such as Down's syndrome, characterisation of chromosomal aberrations in cell lines and tumour samples and SNP/mutation detection.]. 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:12060695;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP826757.RA3rGpRWR6OBekMr2RzAYeO7J1nmKtMUByVc2-RQeyirU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:26+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}