@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw> .
@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:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_head {
  this: np:hasAssertion dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_assertion;
    np:hasProvenance dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_provenance;
    np:hasPublicationInfo dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_assertion a np:Assertion .
  
  dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_provenance a np:Provenance .
  
  dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_assertion {
  miriam-gene:6870 a ncit:C16612 .
  
  lld:C0342538 a ncit:C7057 .
  
  dgn-gda:DGNfe8a1caf747db4eadec14d91fd2a4094 sio:SIO_000628 miriam-gene:6870, lld:C0342538;
    a sio:SIO_001121 .
}

dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_provenance {
  dgn-np:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_assertion dcterms:description
      "[Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.]. 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:21292259;
    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:NP462433.RAtiJyDpaDbPBQ5DUDLwin4Q01bvHQd2nACWy8g0JFoSw130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:35+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" .
}