@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k> .
@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:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_head {
  this: np:hasAssertion dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_assertion;
    np:hasProvenance dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_provenance;
    np:hasPublicationInfo dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_assertion a np:Assertion .
  
  dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_provenance a np:Provenance .
  
  dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_assertion {
  miriam-gene:2762 a ncit:C16612 .
  
  lld:C0398738 a ncit:C7057 .
  
  dgn-gda:DGN357480c0f7d934868b2bf5a1b65420ca sio:SIO_000628 miriam-gene:2762, lld:C0398738;
    a sio:SIO_001121 .
}

dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_provenance {
  dgn-np:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_assertion dcterms:description
      "[Since the levels of immunoreactive GMD in cell lysates were comparable in the patient and in controls, the biochemical deficiency of intracellular GMD activity in LAD II seems to be due to mutation(s) affecting some still unidentified GMD-regulating protein.]. 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:9662431;
    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:NP783258.RArQQBkkl4Cye2koxWCU0-iMwWdFQoL8a1_BipJ_T0x_k130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:54+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" .
}