[ {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/gda/DGN3ab335ef86cb060a289a45e538eece2d",
    "@type" : [ "http://semanticscience.org/resource/SIO_001122" ],
    "http://semanticscience.org/resource/SIO_000628" : [ {
      "@id" : "http://identifiers.org/ncbigene/4534"
    }, {
      "@id" : "http://linkedlifedata.com/resource/umls/id/C0036572"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#assertion"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M",
    "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ],
    "http://www.nanopub.org/nschema#hasAssertion" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#assertion"
    } ],
    "http://www.nanopub.org/nschema#hasProvenance" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#provenance"
    } ],
    "http://www.nanopub.org/nschema#hasPublicationInfo" : [ {
      "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#publicationInfo"
    } ]
  } ],
  "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#head"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#assertion",
    "http://purl.org/dc/terms/description" : [ {
      "@language" : "en",
      "@value" : "[Absence of the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene product is proposed as a possible mechanism for the severe visual impairment; absence of CHRNA7 (alpha7-nicotinic receptor subunit) as a cause of the refractory seizures and severe cognitive impairment; and deletion of MTMR10 and/or MTMR15 (encoding myotubularin related proteins) alone or combined with other homozygously deleted genes as a cause for the congenital hypotonia with areflexia.]. 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/20425840"
    } ],
    "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/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#provenance"
}, {
  "@graph" : [ {
    "@id" : "http://rdf.disgenet.org/resource/nanopub/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M",
    "http://purl.org/dc/terms/created" : [ {
      "@type" : "http://www.w3.org/2001/XMLSchema#dateTime",
      "@value" : "2017-10-17T13:14:48+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/NP724229.RA9JusDJ3jQ15DiKW8mwMfvmrlUtZ3tZFhjYRzSE2nQ2M#publicationInfo"
} ]