@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc> .
@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:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_head {
  this: np:hasAssertion dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion ;
    np:hasProvenance dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance ;
    np:hasPublicationInfo dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion a np:Assertion .
  dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance a np:Provenance .
  dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion {
  miriam-gene:55349 a ncit:C16612 .
  lld:C0018816 a ncit:C7057 .
  dgn-gda:DGNf617b06d79015f36de3bb338a5db35f4 sio:SIO_000628 miriam-gene:55349 , lld:C0018816 ;
    a sio:SIO_001121 .
}
dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_provenance {
  dgn-np:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_assertion dcterms:description "[The present study has identified NKX2.5 and GATA4 constitutional variants in our CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues.]. 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:21276881 ;
    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:NP896288.RAAXXJe4gg70kQqdnk3Vc31JmU14neCiEe3BM1FHLI4Bc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:11+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" .
}