[ {
  "@graph" : [ {
    "@id" : "http://identifiers.org/ncbigene/6654",
    "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ]
  }, {
    "@id" : "http://linkedlifedata.com/resource/umls/id/C0878544",
    "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057" ]
  }, {
    "@id" : "http://rdf.disgenet.org/resource/gda/DGNaa8583c452f081d82707bbd4cf8889aa",
    "@type" : [ "http://semanticscience.org/resource/SIO_001122" ],
    "http://semanticscience.org/resource/SIO_000628" : [ {
      "@id" : "http://identifiers.org/ncbigene/6654"
    }, {
      "@id" : "http://linkedlifedata.com/resource/umls/id/C0878544"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY",
    "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ],
    "http://www.nanopub.org/nschema#hasAssertion" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion"
    } ],
    "http://www.nanopub.org/nschema#hasProvenance" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance"
    } ],
    "http://www.nanopub.org/nschema#hasPublicationInfo" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion",
    "@type" : [ "http://www.nanopub.org/nschema#Assertion" ]
  }, {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance",
    "@type" : [ "http://www.nanopub.org/nschema#Provenance" ]
  }, {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo",
    "@type" : [ "http://www.nanopub.org/nschema#PublicationInfo" ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_head"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion",
    "http://purl.org/dc/terms/description" : [ {
      "@language" : "en",
      "@value" : "[Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.]. 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/v4.0.0/void/source_evidence_literature"
    } ],
    "http://semanticscience.org/resource/SIO_000772" : [ {
      "@id" : "http://identifiers.org/pubmed/22585553"
    } ],
    "http://www.w3.org/ns/prov#wasDerivedFrom" : [ {
      "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016"
    } ],
    "http://www.w3.org/ns/prov#wasGeneratedBy" : [ {
      "@id" : "http://purl.obolibrary.org/obo/ECO_0000203"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v4.0.0/void/befree-2016",
    "http://purl.org/pav/importedOn" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#date",
      "@value" : "2016-02-19"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature",
    "@type" : [ "http://purl.obolibrary.org/obo/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/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY",
    "http://purl.org/dc/terms/created" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#dateTime",
      "@value" : "2016-05-13T12:49:10+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/v4.0.0/void/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/v4.0.0/void/disgenetv3.0rdf"
    } ],
    "http://purl.org/pav/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/createdBy" : [ {
      "@id" : "http://orcid.org/0000-0003-0169-8159"
    } ],
    "http://purl.org/pav/version" : [ {
      "@value" : "v4.0.0.0"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf",
    "http://purl.org/pav/version" : [ {
      "@value" : "v4.0.0"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo"
} ]