@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY> .
@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:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_head {
  this: np:hasAssertion dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion;
    np:hasProvenance dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance;
    np:hasPublicationInfo dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion a np:Assertion .
  
  dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance a np:Provenance .
  
  dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion {
  miriam-gene:2705 a ncit:C16612 .
  
  lld:C0031117 a ncit:C7057 .
  
  dgn-gda:DGN048b3ff146c32d1982aae0769d2bd78b sio:SIO_000628 miriam-gene:2705, lld:C0031117;
    a sio:SIO_001121 .
}

dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance {
  dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion dcterms:description
      "[These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.]. 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:12542510;
    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:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:29+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" .
}