@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg> .
@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:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_head {
  this: np:hasAssertion dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_assertion;
    np:hasProvenance dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_provenance;
    np:hasPublicationInfo dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_assertion a np:Assertion .
  
  dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_provenance a np:Provenance .
  
  dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_assertion {
  miriam-gene:415 a ncit:C16612 .
  
  lld:C3669395 a ncit:C7057 .
  
  dgn-gda:DGN2d7d9367ab2aef49097182746a27ade6 sio:SIO_000628 miriam-gene:415, lld:C3669395;
    a sio:SIO_001121 .
}

dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_provenance {
  dgn-np:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_assertion dcterms:description
      "[This report expands the spectrum of mutations of the ARSE gene and, to the best of our knowledge, is the first clinically and genetically confirmed case of CDPX1 with severe spinal cord compression in Korea.]. 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:23462608;
    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:NP253458.RAs0J6crOb3K8q3FKAEsSvJxQgmno3Fh_ulkaIsdasTMg130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:04+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 orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}