[ {
  "@graph" : [ {
    "@id" : "http://identifiers.org/ncbigene/5423",
    "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ]
  }, {
    "@id" : "http://linkedlifedata.com/resource/umls/id/C0043119",
    "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ]
  }, {
    "@id" : "http://rdf.disgenet.org/gene-disease-association.ttl#DGN56b012f5ac613d990def7b5409bb8944",
    "@type" : [ "http://semanticscience.org/resource/SIO_001121" ],
    "http://semanticscience.org/resource/SIO_000628" : [ {
      "@id" : "http://identifiers.org/ncbigene/5423"
    }, {
      "@id" : "http://linkedlifedata.com/resource/umls/id/C0043119"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_assertion"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk",
    "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ],
    "http://www.nanopub.org/nschema#hasAssertion" : [ {
      "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_assertion"
    } ],
    "http://www.nanopub.org/nschema#hasProvenance" : [ {
      "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_provenance"
    } ],
    "http://www.nanopub.org/nschema#hasPublicationInfo" : [ {
      "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_publicationInfo"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_assertion",
    "@type" : [ "http://www.nanopub.org/nschema#Assertion" ]
  }, {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_provenance",
    "@type" : [ "http://www.nanopub.org/nschema#Provenance" ]
  }, {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_publicationInfo",
    "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ]
  } ],
  "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_head"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_assertion",
    "http://purl.org/dc/terms/description" : [ {
      "@language" : "en",
      "@value" : "[Several independent lines of evidence did not support that hypothesis: (1) activity gels showed normal enzyme activity and electrophoretic mobility; (2) nucleotide sequence analysis of the entire coding region failed to reveal mutations (although indicated mistakes in the published sequence); (3) single-strand conformation polymorphism (SSCP) and heteroduplex analyses failed to reveal evidence of mutations in the promoter region; (4) a newly discerned polymorphism failed to reveal evidence of homozygosity by descent in a consanguineous patient; and 5) fluorescence in situ hybridization (FISH) analysis placed the DNA polymerase beta gene centromeric to D8S135 at 8p11.2 and thus beyond the region of peak LOD scores for WS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."
    } ],
    "http://purl.org/ontology/wi/core#evidence" : [ {
      "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature"
    } ],
    "http://semanticscience.org/resource/SIO_000772" : [ {
      "@id" : "http://identifiers.org/pubmed/8168825"
    } ],
    "http://www.w3.org/ns/prov#wasDerivedFrom" : [ {
      "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225"
    } ],
    "http://www.w3.org/ns/prov#wasGeneratedBy" : [ {
      "@id" : "http://purl.obolibrary.org/obo/eco.owl#ECO_0000203"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225",
    "http://purl.org/pav/2.0/importedOn" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#date",
      "@value" : "2014-02-25"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature",
    "@type" : [ "http://purl.obolibrary.org/obo/eco.owl#ECO_0000212" ],
    "http://www.w3.org/2000/01/rdf-schema#comment" : [ {
      "@language" : "en",
      "@value" : "Gene-disease associations inferred from text-mining the literature."
    } ],
    "http://www.w3.org/2000/01/rdf-schema#label" : [ {
      "@language" : "en",
      "@value" : "DisGeNET evidence - LITERATURE"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_provenance"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk",
    "http://purl.org/dc/terms/created" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#dateTime",
      "@value" : "2014-10-02T12:33:59+02:00"
    } ],
    "http://purl.org/dc/terms/rights" : [ {
      "@id" : "http://opendatacommons.org/licenses/odbl/1.0/"
    } ],
    "http://purl.org/dc/terms/rightsHolder" : [ {
      "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup"
    } ],
    "http://purl.org/dc/terms/subject" : [ {
      "@id" : "http://semanticscience.org/resource/SIO_000983"
    } ],
    "http://purl.org/net/provenance/ns#usedData" : [ {
      "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf"
    } ],
    "http://purl.org/pav/2.0/authoredBy" : [ {
      "@id" : "http://orcid.org/0000-0001-5999-6269"
    }, {
      "@id" : "http://orcid.org/0000-0002-7534-7661"
    }, {
      "@id" : "http://orcid.org/0000-0002-9383-528X"
    }, {
      "@id" : "http://orcid.org/0000-0003-0169-8159"
    }, {
      "@id" : "http://orcid.org/0000-0003-1244-7654"
    } ],
    "http://purl.org/pav/2.0/createdBy" : [ {
      "@id" : "http://orcid.org/0000-0003-0169-8159"
    } ],
    "http://purl.org/pav/2.0/version" : [ {
      "@value" : "v2.1.0.0"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf",
    "http://purl.org/pav/2.0/version" : [ {
      "@value" : "v2.1.0"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/nanopublications.trig#NP215836.RAz9S-qolw0FFlJu7p1QfnYxfx2OMN6D46yLhg4jFFBFk130_publicationInfo"
} ]