@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU> .
@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:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_head {
  this: np:hasAssertion dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_assertion;
    np:hasProvenance dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_provenance;
    np:hasPublicationInfo dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_assertion a np:Assertion .
  
  dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_provenance a np:Provenance .
  
  dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_assertion {
  miriam-gene:8075 a ncit:C16612 .
  
  lld:C0678236 a ncit:C7057 .
  
  dgn-gda:DGNcc61fd914ab6e18d2e453c7326cb347d sio:SIO_000628 miriam-gene:8075, lld:C0678236;
    a sio:SIO_001121 .
}

dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_provenance {
  dgn-np:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_assertion dcterms:description
      "[Biallelic and heterozygous mutations of the BUB1B gene have been reported in mosaic variegated aneuploidy (MVA), a rare disorder characterized by constitutional mosaic aneuploidies associated to severe intrauterine growth retardation, microcephaly and, in most cases, to premature chromatid separation (PCS), highlighting the key role of human BUBR1 in chromosome segregation.]. 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:18932004;
    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:NP350109.RABgmwIMOgSi8xCmKnszAUF2jGtyXBJK74T7nVu4NocZU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:25+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" .
}