@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E> .
@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:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_head {
  this: np:hasAssertion dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion ;
    np:hasProvenance dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance ;
    np:hasPublicationInfo dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion a np:Assertion .
  dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance a np:Provenance .
  dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion {
  miriam-gene:10133 a ncit:C16612 .
  lld:C0206638 a ncit:C7057 .
  dgn-gda:DGN68948c3131307c9d185ec67d257db967 sio:SIO_000628 miriam-gene:10133 , lld:C0206638 ;
    a sio:SIO_001121 .
}
dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_provenance {
  dgn-np:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_assertion dcterms:description "[Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree.]. 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:22936311 ;
    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:NP285875.RAVbh6jUjR2tu8_SsOxa7C4no1MsEbng6bw8kB524Lb7E130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:41+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" .
}