@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs> .
@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/v4.0.0/void/> .

dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_head {
  this: np:hasAssertion dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_assertion;
    np:hasProvenance dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_provenance;
    np:hasPublicationInfo dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_assertion a np:Assertion .
  
  dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_provenance a np:Provenance .
  
  dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_assertion {
  miriam-gene:5376 a ncit:C16612 .
  
  lld:C0442874 a ncit:C7057 .
  
  dgn-gda:DGN6310fa8b1a30aa8801cf8c2c8522de4c sio:SIO_000628 miriam-gene:5376, lld:C0442874;
    a sio:SIO_001122 .
}

dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_provenance {
  dgn-np:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_assertion dcterms:description
      "[Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.]. 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:21194947;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP862322.RAdoUl_07mwJnbBYKFOJPzu_5VS81Grlr_y9pEJNDAoGs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:48:15+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}