@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24> .
@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:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_head {
  this: np:hasAssertion dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion;
    np:hasProvenance dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance;
    np:hasPublicationInfo dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion a np:Assertion .
  
  dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance a np:Provenance .
  
  dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion {
  miriam-gene:2678 a ncit:C16612 .
  
  lld:C0006826 a ncit:C7057 .
  
  dgn-gda:DGNaa0b23622073c18bcf4088e4913060ff sio:SIO_000628 miriam-gene:2678, lld:C0006826;
    a sio:SIO_001121 .
}

dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_provenance {
  dgn-np:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_assertion dcterms:description
      "[Of the MSI cancers containing the PTEN mutation, case 36 had a missense mutation from Lys (AAA) to Glu (GAA) at codon 254, case 43 contained a frameshift mutation (one A deletion) in a 6 bp poly(A) tract affecting codon 265-267, and case 64 harbored two missense mutations from Val (GTG) to Ala (GCG) at codon 222, and from Gly (GGA) to Arg (AGA) at codon 230 indicating biallelic mutation of PTEN.]. 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:12370746;
    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:NP756905.RAX4kS1Xitm_WpI_NDwiDgjBtyZE6_ZNCBSsf6058NA24130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:38+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" .
}