@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q> .
@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 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:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_head {
  this: np:hasAssertion dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion;
    np:hasProvenance dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance;
    np:hasPublicationInfo dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion a np:Assertion .
  
  dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance a np:Provenance .
  
  dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion {
  miriam-gene:378884 a ncit:C16612 .
  
  lld:C0751783 a ncit:C7057 .
  
  dgn-gda:DGN2fc640300e23facee2f363df345d85f7 sio:SIO_000628 miriam-gene:378884, lld:C0751783;
    a sio:SIO_001122 .
}

dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_provenance {
  dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_assertion dc:description
      "[The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:15781812;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP4479.RAVqNuWbRQCsLRelffyPTQn83qXZwfzLBTLM8bE_9bn9Q130_publicationInfo {
  this: dc:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dc:rightsHolder dgn-void:IBIGroup;
    dc: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" .
}