@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE> .
@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 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:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_head {
  this: np:hasAssertion dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_assertion;
    np:hasProvenance dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_provenance;
    np:hasPublicationInfo dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_assertion a np:Assertion .
  
  dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_provenance a np:Provenance .
  
  dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_assertion {
  miriam-gene:5728 a ncit:C16612 .
  
  lld:C0376634 a ncit:C7057 .
  
  dgn-gda:DGNafc8147d55d4a870c3770af963dcf9ac sio:SIO_000628 miriam-gene:5728, lld:C0376634;
    a sio:SIO_001121 .
}

dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_provenance {
  dgn-np:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_assertion dct:description
      "[To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons of the PTEN gene in 40 patients with neurodevelopmental disorders, with or without features of autism spectrum disorder, associated with macrocephaly.]. 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:18759867;
    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:NP27523.RAnlhN0Cj6CMlktgZi4RfMfBzerDwdtxjmrhr-O2g3bPE130_publicationInfo {
  this: dct:created "2014-10-02T12:32:11+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}