@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU> .
@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:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_head {
   this: np:hasAssertion dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_assertion ;
    np:hasProvenance dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_provenance ;
    np:hasPublicationInfo dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_assertion a np:Assertion .
  dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_provenance a np:Provenance .
  dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_assertion {
   miriam-gene:414 a ncit:C16612 .
  lld:C0018798 a ncit:C7057 .
  dgn-gda:DGN8160a1ba5945655e7e3fa48673e3cde4 sio:SIO_000628 miriam-gene:414 , lld:C0018798 ;
    a sio:SIO_001121 .
}
dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_provenance {
   dgn-np:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_assertion dcterms:description "[We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts.]. 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:9415694 ;
    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:NP614940.RAg6zhdOYimhRvw2tvDUr08GD4OqNdHIWirRiFiwXznJU130_publicationInfo {
   this: dcterms:created "2014-10-02T12:38:12+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" .
}