@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs> .
@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:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_head {
  this: np:hasAssertion dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_assertion;
    np:hasProvenance dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_provenance;
    np:hasPublicationInfo dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_assertion a np:Assertion .
  
  dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_provenance a np:Provenance .
  
  dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_assertion {
  miriam-gene:4359 a ncit:C16612 .
  
  lld:C0598589 a ncit:C7057 .
  
  dgn-gda:DGNd231650fdf235532fb71a3d61899b1ea sio:SIO_000628 miriam-gene:4359, lld:C0598589;
    a sio:SIO_001121 .
}

dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_provenance {
  dgn-np:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_assertion dcterms:description
      "[A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively.]. 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:8800924;
    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:NP423535.RAHHaY2EpVIGtUSSx_uk-OFDDKP3b1fetO2St-PqRUljs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:11+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" .
}