@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E> .
@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 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:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_head {
  this: np:hasAssertion dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion;
    np:hasProvenance dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance;
    np:hasPublicationInfo dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion a np:Assertion .
  
  dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance a np:Provenance .
  
  dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion {
  miriam-gene:7248 a ncit:C16612 .
  
  lld:C1854465 a ncit:C7057 .
  
  dgn-gda:DGN3dacf13eab914a091ab43e11d5f17de1 sio:SIO_000628 miriam-gene:7248, lld:C1854465;
    a sio:SIO_001122 .
}

dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_provenance {
  dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_assertion dc:description
      "[We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.]. 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:9328481;
    prov:wasDerivedFrom dgn-void:uniprot-20150221;
    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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}

dgn-np:NP4249.RA4GbsPrgd0MquFcFXqEoC_Elix38wEI18-Ot0gf9be4E130_publicationInfo {
  this: dc:created "2015-08-25T14:37:44+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:disgenetv3.0rdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}