@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M> .
@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:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_head {
  this: np:hasAssertion dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_assertion;
    np:hasProvenance dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_provenance;
    np:hasPublicationInfo dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_assertion a np:Assertion .
  
  dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_provenance a np:Provenance .
  
  dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_assertion {
  miriam-gene:157680 a ncit:C16612 .
  
  lld:C0027947 a ncit:C7057 .
  
  dgn-gda:DGN102ac37474002b27f71a024f0bcf750a sio:SIO_000628 miriam-gene:157680, lld:C0027947;
    a sio:SIO_001121 .
}

dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_provenance {
  dgn-np:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_assertion dcterms:description
      "[From this study and a review of more than 160 genotyped cases from the literature, it is concluded that, given the large size of the gene, VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years.]. 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:20656880;
    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:NP976692.RA48kwAS-g4tPajqQtSRCZ0IOkdzSQLWQ_LMOAtOgLF8M130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:36+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" .
}