@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY> .
@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:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_head {
   this: np:hasAssertion dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_assertion ;
    np:hasProvenance dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_provenance ;
    np:hasPublicationInfo dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_assertion a np:Assertion .
  dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_provenance a np:Provenance .
  dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_assertion {
   miriam-gene:414 a ncit:C16612 .
  lld:C2939192 a ncit:C7057 .
  dgn-gda:DGNce044329b8c4bf0f377dbd9edac27d0f sio:SIO_000628 miriam-gene:414 , lld:C2939192 ;
    a sio:SIO_001121 .
}
dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_provenance {
   dgn-np:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_assertion dcterms:description "[We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs).]. 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:7573129 ;
    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:NP193252.RA9x2Cxc5q921WeZf_Nw4REsxGxhOXH9v1kmv7zq59bwY130_publicationInfo {
   this: dcterms:created "2014-10-02T12:33:46+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" .
}