@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@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/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .

dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_head {
  this: np:hasAssertion dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion;
    np:hasProvenance dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance;
    np:hasPublicationInfo dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion a np:Assertion .
  
  dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance a np:Provenance .
  
  dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion {
  miriam-gene:57704 a ncit:C16612 .
  
  lld:C0004134 a ncit:C7057 .
  
  dgn-gda:DGN91453c8f8619370cf0c2cb48951fadb6 sio:SIO_000628 miriam-gene:57704, lld:C0004134;
    a sio:SIO_001121 .
}

dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance {
  dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion dcterms:description
      "[By contrast, the GBA2 mutated patients show phenotypes combining typical features of both the SPG46 subtype and the recessive ataxia form, with marked intrafamilial variability thereby expanding the spectrum of clinical entities associated with GBA2 mutations.]. 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:24337409;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:09+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:disgenetv3.0rdf;
    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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}