@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_head {
  this: np:hasAssertion dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_assertion;
    np:hasProvenance dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_provenance;
    np:hasPublicationInfo dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_assertion a np:Assertion .
  
  dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_provenance a np:Provenance .
  
  dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_assertion {
  miriam-gene:1410 a ncit:C16612 .
  
  lld:C1839780 a ncit:C7057 .
  
  dgn-gda:DGNa0944abf8705c979f8ffdaa467eac9a4 sio:SIO_000628 miriam-gene:1410, lld:C1839780;
    a sio:SIO_001121 .
}

dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_provenance {
  dgn-np:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_assertion dcterms:description
      "[Here we report a cellular endophenotype involving increased stress response (HSP27, HSP70 and CRYAB) and altered lamin A/C expression/organization in cultured skin fibroblasts from 11 male carriers of premutation alleles of the FMR1 gene, including six patients with FXTAS and five premutation carriers with no clinical evidence of FXTAS, compared with six controls.]. 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:19864489;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP347214.RAQAf97LoQvIvEdVbaWDNP-QV-WHsC0uSlVyAWqatNpXE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:24+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}