@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk> .
@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:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_head {
  this: np:hasAssertion dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_assertion;
    np:hasProvenance dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_provenance;
    np:hasPublicationInfo dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_assertion a np:Assertion .
  
  dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_provenance a np:Provenance .
  
  dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_assertion {
  miriam-gene:22995 a ncit:C16612 .
  
  lld:C0265202 a ncit:C7057 .
  
  dgn-gda:DGN734e073ea5487f08c8becc47b14bb11d sio:SIO_000628 miriam-gene:22995, lld:C0265202;
    a sio:SIO_001121 .
}

dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_provenance {
  dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_assertion dcterms:description
      "[Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:21131973;
    prov:wasDerivedFrom dgn-void:ctd_human-20130708;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

dgn-np:NP11585.RAe24ScacfdEueW-otMJsV-JnmOMkDSm3wYPD4ShnwfZk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:03+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" .
}