@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA> .
@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:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_head {
  this: np:hasAssertion dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_assertion;
    np:hasProvenance dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_provenance;
    np:hasPublicationInfo dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_assertion a np:Assertion .
  
  dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_provenance a np:Provenance .
  
  dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_assertion {
  miriam-gene:4359 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGN31fb788e5629a7abf37e1c64fb5ee258 sio:SIO_000628 miriam-gene:4359, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_provenance {
  dgn-np:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_assertion dcterms:description
      "[Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), CMT type 2 (CMT2) and Déjérine-Sottas neuropathy (DS) patients, and only in the coding region of PMP22 in HNPP families lacking a deletion.]. 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:9187667;
    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:NP1375024.RAHbUcaTLdnOA82odS9AkkaoEtEsXG-BsRA_goxEQaOaA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:09+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" .
}