@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI> .
@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:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_head {
  this: np:hasAssertion dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion;
    np:hasProvenance dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance;
    np:hasPublicationInfo dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion a np:Assertion .
  
  dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance a np:Provenance .
  
  dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion {
  miriam-gene:4359 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGN9e51751374ddd58a39b8926d76f1964f sio:SIO_000628 miriam-gene:4359, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_provenance {
  dgn-np:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_assertion dcterms:description
      "[We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases.]. 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:25429913;
    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:NP1240746.RAwy1FQKCWsNcXmf30t3N5AiLB1CIFao2nD_yw91aPEWI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:08+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" .
}