@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_head {
  this: np:hasAssertion dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion;
    np:hasProvenance dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance;
    np:hasPublicationInfo dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion a np:Assertion .
  
  dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance a np:Provenance .
  
  dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion {
  miriam-gene:3479 a ncit:C16612 .
  
  lld:C0013336 a ncit:C7057 .
  
  dgn-gda:DGN37ac08b48000033fac35cfcff772dbda sio:SIO_000628 miriam-gene:3479, lld:C0013336;
    a sio:SIO_001121 .
}

dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_provenance {
  dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_assertion dcterms:description
      "[We found the following results: 1) a heterozygous mutation (R709Q) changing the cleavage site from Arg-Lys-Arg-Arg to Arg-Lys-Gln-Arg was identified in a 6-yr-old Japanese girl (case 1) and her mother who also had IUGR with short stature (case 2); 2) fibroblasts from case 2 contained more IGF-IR proreceptor protein (189 +/- 26% of normal) and less mature beta-subunit protein (63 +/- 12%); 3) [125I]IGF-I binding to fibroblasts from case 2 was reduced, compared with normal control (0.61 +/- 0.16 x 10(6) vs. 1.14 +/- 0.12 x 10(6) sites per cell; P < 0.05); and 4) both IGF-I-stimulated [3H]thymidine incorporation and IGF-IR beta-subunit autophosphorylation were low in fibroblasts from case 2, compared with those of control (P < 0.05).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:15928254;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP158598.RAkuA04yD3eZjFDugJGyrIHVtM5kTKcahHV4wjrPpUgQk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:25+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}