@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798> .
@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:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_head {
   this: np:hasAssertion dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_assertion ;
    np:hasProvenance dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_provenance ;
    np:hasPublicationInfo dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_assertion a np:Assertion .
  dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_provenance a np:Provenance .
  dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_assertion {
   miriam-gene:57216 a ncit:C16612 .
  lld:C0039075 a ncit:C7057 .
  dgn-gda:DGN97438461f0c83b0d5814b6817ef4112e sio:SIO_000628 miriam-gene:57216 , lld:C0039075 ;
    a sio:SIO_001121 .
}
dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_provenance {
   dgn-np:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_assertion dcterms:description "[The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia.]. 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:20186811 ;
    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:NP303073.RAtRDzJ1Ka2ahdtwtPQDj8uJ-nfsmJpln1OFrY3u2H798130_publicationInfo {
   this: dcterms:created "2014-10-02T12:34:54+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" .
}