@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc> .
@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:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_head {
  this: np:hasAssertion dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_assertion;
    np:hasProvenance dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_provenance;
    np:hasPublicationInfo dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_assertion a np:Assertion .
  
  dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_provenance a np:Provenance .
  
  dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_assertion {
  miriam-gene:4204 a ncit:C16612 .
  
  lld:C0268301 a ncit:C7057 .
  
  dgn-gda:DGN21625c75e8e46b544d12c32cda08236b sio:SIO_000628 miriam-gene:4204, lld:C0268301;
    a sio:SIO_001121 .
}

dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_provenance {
  dgn-np:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_assertion dcterms:description
      "[While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet.]. 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:20860806;
    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:NP552076.RALcqkLQr8SRNbwL58jTfFVwxPj8_CbwAtln2BuOzpOGc130_publicationInfo {
  this: dcterms:created "2015-08-25T14:43:07+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" .
}