@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU> .
@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:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_head {
  this: np:hasAssertion dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion;
    np:hasProvenance dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance;
    np:hasPublicationInfo dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion a np:Assertion .
  
  dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance a np:Provenance .
  
  dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion {
  miriam-gene:7048 a ncit:C16612 .
  
  lld:C0024796 a ncit:C7057 .
  
  dgn-gda:DGN127de709450dd647854b088f20684ebf sio:SIO_000628 miriam-gene:7048, lld:C0024796;
    a sio:SIO_001121 .
}

dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_provenance {
  dgn-np:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_assertion dcterms:description
      "[In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis.]. 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:18781618;
    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:NP298478.RAgn5MZCdFussoAyWRppv9HpmM_-Ai29ZmIFo6YKb-DRU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:49+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" .
}