@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g> .
@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:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_head {
  this: np:hasAssertion dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_assertion;
    np:hasProvenance dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_provenance;
    np:hasPublicationInfo dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_assertion a np:Assertion .
  
  dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_provenance a np:Provenance .
  
  dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_assertion {
  miriam-gene:2798 a ncit:C16612 .
  
  lld:C0271623 a ncit:C7057 .
  
  dgn-gda:DGN475053ffb34e842c822c0ff50d4f1955 sio:SIO_000628 miriam-gene:2798, lld:C0271623;
    a sio:SIO_001121 .
}

dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_provenance {
  dgn-np:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_assertion dcterms:description
      "[It should not have been surprising, in retrospect, to find that even a single amino acid mutation dramatically alters protein function or routing because increased plasma membrane expression is associated with deletion of a single amino acid in the human GnRHR (K191), and point mutations have been shown to block plasma membrane routing of many receptors, including most of those responsible for the hypogonadotropic hypogonadism phenotype.]. 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:14671217;
    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:NP424190.RAibGlzuW3-MIsIyR4HraAEKiVa6z3muDRf2GEBRpkU9g130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:57+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" .
}