[ {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/gda/DGN903fe156f3c6b43b69ef1b6bbfe933c3",
    "@type" : [ "http://semanticscience.org/resource/SIO_001122" ],
    "http://semanticscience.org/resource/SIO_000628" : [ {
      "@id" : "http://identifiers.org/ncbigene/2737"
    }, {
      "@id" : "http://linkedlifedata.com/resource/umls/id/C0265677"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#assertion"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI",
    "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ],
    "http://www.nanopub.org/nschema#hasAssertion" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#assertion"
    } ],
    "http://www.nanopub.org/nschema#hasProvenance" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#provenance"
    } ],
    "http://www.nanopub.org/nschema#hasPublicationInfo" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#publicationInfo"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#head"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#assertion",
    "http://purl.org/dc/terms/description" : [ {
      "@language" : "en",
      "@value" : "[We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae.]. 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/v5.0.0/void/source_evidence_literature"
    } ],
    "http://semanticscience.org/resource/SIO_000772" : [ {
      "@id" : "http://identifiers.org/pubmed/24819706"
    } ],
    "http://www.w3.org/ns/prov#wasDerivedFrom" : [ {
      "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE"
    } ],
    "http://www.w3.org/ns/prov#wasGeneratedBy" : [ {
      "@id" : "http://purl.obolibrary.org/obo/ECO_0000203"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v5.0.0/void/BEFREE",
    "http://purl.org/pav/importedOn" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#date",
      "@value" : "2017-02-19"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v5.0.0/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/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#provenance"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI",
    "http://purl.org/dc/terms/created" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#dateTime",
      "@value" : "2017-10-17T13:13:01+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/v5.0.0/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/v5.0.0/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" : "v5.0.0.0"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf",
    "http://purl.org/pav/version" : [ {
      "@value" : "v5.0.0"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP447106.RAQmI8jgziD2Y7YxyBNOqNZjmj6NokPUDa2Gtsb3-uIpI#publicationInfo"
} ]