@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4> .
@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:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_head {
  this: np:hasAssertion dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_assertion;
    np:hasProvenance dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_provenance;
    np:hasPublicationInfo dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_assertion a np:Assertion .
  
  dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_provenance a np:Provenance .
  
  dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_assertion {
  miriam-gene:6445 a ncit:C16612 .
  
  lld:C1275808 a ncit:C7057 .
  
  dgn-gda:DGN5e93148d98b31717aac3f67cbf3535c9 sio:SIO_000628 miriam-gene:6445, lld:C1275808;
    a sio:SIO_001121 .
}

dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_provenance {
  dgn-np:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_assertion dcterms:description
      "[Moreover, although reduced transactivation may be caused by retention of the wild-type protein in the cytoplasm or in nuclear aggregates, this mechanism can only be partially responsible for the pathogenesis of CCHS because of the reduction in cytoplasmic and nuclear accumulation when the +13 alanine mutant is co-expressed with wild-type protein, and the fact that the shortest polyalanine expansions do not form visible cytoplasmic aggregates.]. 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:23103552;
    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:NP692469.RArSgjBGPRgtanf_NYoWoM8mfcS1oojzwb5A3qboYZHj4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:44:37+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}