[ {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/gda/DGN2abe640d4e80f328d47fca7a9bb9f5d0",
    "@type" : [ "http://semanticscience.org/resource/SIO_001121" ],
    "http://semanticscience.org/resource/SIO_000628" : [ {
      "@id" : "http://identifiers.org/ncbigene/178"
    }, {
      "@id" : "http://linkedlifedata.com/resource/umls/id/C0017922"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#assertion"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q",
    "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ],
    "http://www.nanopub.org/nschema#hasAssertion" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#assertion"
    } ],
    "http://www.nanopub.org/nschema#hasProvenance" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#provenance"
    } ],
    "http://www.nanopub.org/nschema#hasPublicationInfo" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#publicationInfo"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#head"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#assertion",
    "http://purl.org/dc/terms/description" : [ {
      "@language" : "en",
      "@value" : "[The 4529insA mutation appeared to be homozygous in this patient and was not found in 20 unrelated controls or 18 other GSD-III patients (14 GSD-IIIa and 4 GSD-IIIb).]. 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_curated"
    } ],
    "http://semanticscience.org/resource/SIO_000772" : [ {
      "@id" : "http://identifiers.org/pubmed/8990006"
    } ],
    "http://www.w3.org/ns/prov#wasDerivedFrom" : [ {
      "@id" : "http://rdf.disgenet.org/v5.0.0/void/CTD_human"
    } ],
    "http://www.w3.org/ns/prov#wasGeneratedBy" : [ {
      "@id" : "http://purl.obolibrary.org/obo/ECO_0000218"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v5.0.0/void/CTD_human",
    "http://purl.org/pav/importedOn" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#date",
      "@value" : "2017-01-25"
    } ]
  }, {
    "@id" : "http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated",
    "@type" : [ "http://purl.obolibrary.org/obo/ECO_0000205" ],
    "http://www.w3.org/2000/01/rdf-schema#comment" : [ {
      "@language" : "en",
      "@value" : "Gene-disease associations manually curated."
    } ],
    "http://www.w3.org/2000/01/rdf-schema#label" : [ {
      "@language" : "en",
      "@value" : "DisGeNET evidence - CURATED"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#provenance"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q",
    "http://purl.org/dc/terms/created" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#dateTime",
      "@value" : "2017-10-17T13:10:20+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/NP22711.RAMK-xh80USDiotNYly2S590cxcATgYsEFe1I5Hsuls-Q#publicationInfo"
} ]