@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48> .
@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/v3.0.0/void/> .

dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_head {
  this: np:hasAssertion dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_assertion;
    np:hasProvenance dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_provenance;
    np:hasPublicationInfo dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_assertion a np:Assertion .
  
  dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_provenance a np:Provenance .
  
  dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_assertion {
  miriam-gene:3848 a ncit:C16612 .
  
  lld:C0263580 a ncit:C7057 .
  
  dgn-gda:DGNae5d3033760f02887be1a07cc6bf59ca sio:SIO_000628 miriam-gene:3848, lld:C0263580;
    a sio:SIO_001122 .
}

dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_provenance {
  dgn-np:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_assertion dcterms:description
      "[Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)).]. 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:16417221;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP528327.RAg19XqmMocqmwQoe_UH8gRWwhKAL6IJBHat2FudwQY48130_publicationInfo {
  this: dcterms:created "2015-08-25T14:42:52+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}