@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo> .
@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:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_head {
  this: np:hasAssertion dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_assertion;
    np:hasProvenance dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_provenance;
    np:hasPublicationInfo dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_assertion a np:Assertion .
  
  dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_provenance a np:Provenance .
  
  dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_assertion {
  miriam-gene:1120 a ncit:C16612 .
  
  lld:C0699743 a ncit:C7057 .
  
  dgn-gda:DGNdf363648924ba7492884bbcf2b3f8c49 sio:SIO_000628 miriam-gene:1120, lld:C0699743;
    a sio:SIO_001121 .
}

dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_provenance {
  dgn-np:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_assertion dcterms:description
      "[We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB).]. 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:21665002;
    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:NP530932.RAsc-rpILTVAd4fkALcB3DDFkUfc1p1l95kPRJG-z0HNo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:20+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" .
}