@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k> .
@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:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_head {
  this: np:hasAssertion dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion;
    np:hasProvenance dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance;
    np:hasPublicationInfo dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion a np:Assertion .
  
  dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance a np:Provenance .
  
  dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion {
  miriam-gene:5827 a ncit:C16612 .
  
  lld:C0442874 a ncit:C7057 .
  
  dgn-gda:DGNa61f4a06e82e3cc477927521e6db51d2 sio:SIO_000628 miriam-gene:5827, lld:C0442874;
    a sio:SIO_001121 .
}

dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_provenance {
  dgn-np:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_assertion dcterms:description
      "[It is likely that the gene encoding the peripheral myelin protein PMP22 is at least one of the genes involved since the PMP22 gene maps within the CMT1A duplication (or HNPP deletion), and point mutations within it have been shown to cause a CMT phenotype in humans and comparable neuropathies in rodents (trembler and tremblerJ).]. 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:7515304;
    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:NP1309833.RAbQifeDEA9_xR_ZkugVvdEEgUh_D1aQW4eI_rCqcou3k130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:39+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" .
}