@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE> .
@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:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_head {
  this: np:hasAssertion dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion;
    np:hasProvenance dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance;
    np:hasPublicationInfo dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion a np:Assertion .
  
  dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance a np:Provenance .
  
  dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion {
  miriam-gene:5376 a ncit:C16612 .
  
  lld:C0442874 a ncit:C7057 .
  
  dgn-gda:DGN251df57f585664654a385c1b2a33fd21 sio:SIO_000628 miriam-gene:5376, lld:C0442874;
    a sio:SIO_001121 .
}

dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_provenance {
  dgn-np:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_assertion dcterms:description
      "[A son heterozygous for the PMP22 point mutation had no signs of neuropathy, while two others heterozygous for the deletion had HNPP, suggesting that point mutations in PMP22 can result in dominant and recessive alleles contributing to CMT1A.]. 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:8252046;
    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:NP1336773.RAVeGtixQRobf6Tl-4iQV_GtR_oRWiB-RhDfDfFjIFQPE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:52+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" .
}