@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y> .
@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:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_head {
  this: np:hasAssertion dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion;
    np:hasProvenance dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance;
    np:hasPublicationInfo dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion a np:Assertion .
  
  dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance a np:Provenance .
  
  dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion {
  miriam-gene:2688 a ncit:C16612 .
  
  lld:C0271568 a ncit:C7057 .
  
  dgn-gda:DGN3db2cd08ff2ee874ba35fd44fd490465 sio:SIO_000628 miriam-gene:2688, lld:C0271568;
    a sio:SIO_001121 .
}

dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_provenance {
  dgn-np:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_assertion dcterms:description
      "[These results clearly demonstrate that this point mutation (patients with Laron syndrome) does not modify the synthesis or the intracellular pathway of receptor proteins, but rather abolishes ability of the receptor or BP to bind GH and is thus responsible for the extreme 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:8450064;
    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:NP1342242.RAtiTwZcH_rVqLv_tj0wJV_AUxIyXmLctOCYtEEfEXM-Y130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:54+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" .
}