@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg> .
@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:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_head {
  this: np:hasAssertion dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_assertion;
    np:hasProvenance dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_provenance;
    np:hasPublicationInfo dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_assertion a np:Assertion .
  
  dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_provenance a np:Provenance .
  
  dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_assertion {
  miriam-gene:3918 a ncit:C16612 .
  
  lld:C0024796 a ncit:C7057 .
  
  dgn-gda:DGN79d22288422134191c289e54b4c54dad sio:SIO_000628 miriam-gene:3918, lld:C0024796;
    a sio:SIO_001121 .
}

dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_provenance {
  dgn-np:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_assertion dcterms:description
      "[We searched the TGFBR2 gene for mutations in eight patients with spontaneous spinal CSF leaks who also had other features associated with TGFBR2 mutations, i.e., skeletal features of Marfan syndrome, arterial tortuosity, and(or) thoracic aortic aneurysm.]. 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:18264665;
    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:NP656269.RAfRDt-UqAWQuMHMXCJoGanFxtxgW2uqayEtLf6kK2Wkg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:35+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" .
}