@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4> .
@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 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:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_head {
  this: np:hasAssertion dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion;
    np:hasProvenance dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_provenance;
    np:hasPublicationInfo dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion a np:Assertion .
  
  dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_provenance a np:Provenance .
  
  dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion {
  miriam-gene:1286 a ncit:C16612 .
  
  lld:C1859726 a ncit:C7057 .
  
  dgn-gda:DGN0952cf6002b5aef3aeecf81811c271ab sio:SIO_000628 miriam-gene:1286, lld:C1859726;
    a sio:SIO_001121 .
}

dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_provenance {
  dgn-np:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_assertion dc:description
      "[The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient.]. 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:21897443;
    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:NP376490.RAAzRc3Ff62UCCi2tkMz1AcbTXsibsyn1f4OXlLOZlni4130_publicationInfo {
  this: dc:created "2014-10-02T12:35:40+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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" .
}