@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA> .
@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:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_head {
  this: np:hasAssertion dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion ;
    np:hasProvenance dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_provenance ;
    np:hasPublicationInfo dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion a np:Assertion .
  dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_provenance a np:Provenance .
  dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion {
  miriam-gene:10020 a ncit:C16612 .
  lld:C1853926 a ncit:C7057 .
  dgn-gda:DGN31722e1d7921693d85a2f94d116edd13 sio:SIO_000628 miriam-gene:10020 , lld:C1853926 ;
    a sio:SIO_001122 .
}
dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_provenance {
  dgn-np:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_assertion dcterms:description "[To elucidate the pathological mechanisms leading from the mutated GNE to the HIBM phenotype, we attempted to identify and characterize early occurring downstream events by analyzing the genomic expression patterns of muscle specimens from 10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological changes, compared with 10 healthy matched control individuals, using GeneChip expression microarrays.]. 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:18723858 ;
    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:NP689411.RAOw_lpwmdB5p1q_XilpWzlkdVv7xBidV_FnX_ALbupnA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:57+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" .
}