@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk> .
@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:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_head {
  this: np:hasAssertion dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion;
    np:hasProvenance dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance;
    np:hasPublicationInfo dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion a np:Assertion .
  
  dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance a np:Provenance .
  
  dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion {
  miriam-gene:3784 a ncit:C16612 .
  
  lld:C1141890 a ncit:C7057 .
  
  dgn-gda:DGN80e9326bfc09c0d37fb5cce3351b9281 sio:SIO_000628 miriam-gene:3784, lld:C1141890;
    a sio:SIO_001122 .
}

dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance {
  dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion dcterms:description
      "[The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening).]. 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:24217263;
    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:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:17+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" .
}