@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw> .
@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:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_head {
   this: np:hasAssertion dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion ;
    np:hasProvenance dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance ;
    np:hasPublicationInfo dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion a np:Assertion .
  dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance a np:Provenance .
  dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_assertion {
   miriam-gene:414 a ncit:C16612 .
  lld:C0018818 a ncit:C7057 .
  dgn-gda:DGNcbbe859027f6bb59580b1801659c6d35 sio:SIO_000628 miriam-gene:414 , lld:C0018818 ;
    a sio:SIO_001121 .
}
dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_provenance {
   dgn-np:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_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:NP749445.RAjWaEUYoIUNZmwpBBJm4NheyfC3c11W04NYCPrKXQcWw130_publicationInfo {
   this: dcterms:created "2014-10-02T12:39:34+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> ;
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}