@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0> .
@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:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_head {
  this: np:hasAssertion dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_assertion;
    np:hasProvenance dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_provenance;
    np:hasPublicationInfo dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_assertion a np:Assertion .
  
  dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_provenance a np:Provenance .
  
  dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_assertion {
  miriam-gene:1641 a ncit:C16612 .
  
  lld:C0431380 a ncit:C7057 .
  
  dgn-gda:DGN0c38d1caaa5b7bf20698d2cc5610689f sio:SIO_000628 miriam-gene:1641, lld:C0431380;
    a sio:SIO_001122 .
}

dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_provenance {
  dgn-np:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_assertion dcterms:description
      "[We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases.]. 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:10369164;
    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:NP350726.RA-FOdpuu0DjeeLOq9U82DtCVe-Nvrc0yY8YLcdtm1RB0130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:02+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" .
}