@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_head {
  this: np:hasAssertion dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion;
    np:hasProvenance dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_provenance;
    np:hasPublicationInfo dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion a np:Assertion .
  
  dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_provenance a np:Provenance .
  
  dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion {
  miriam-gene:2688 a ncit:C16612 .
  
  lld:C0271568 a ncit:C7057 .
  
  dgn-gda:DGN3896bc274bd5d2c3b5b90ada23dbf659 sio:SIO_000628 miriam-gene:2688, lld:C0271568;
    a sio:SIO_001122 .
}

dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_provenance {
  dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion dcterms:description
      "[In two patients with growth hormone (GH) insensitivity syndrome (Laron syndrome), in whom the GH receptor is able to bind the hormone, the D152H mutation was identified, and lack of dimerization was proposed to explain GH resistance in these patients.]. 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:9723864;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:22+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:disgenetv3.0rdf;
    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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}