@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4> .
@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:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_head {
  this: np:hasAssertion dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_assertion;
    np:hasProvenance dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_provenance;
    np:hasPublicationInfo dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_assertion a np:Assertion .
  
  dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_provenance a np:Provenance .
  
  dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_assertion {
  miriam-gene:26278 a ncit:C16612 .
  
  lld:C0026838 a ncit:C7057 .
  
  dgn-gda:DGN2460798d9230f6fefe3bbc8b96d3ccc9 sio:SIO_000628 miriam-gene:26278, lld:C0026838;
    a sio:SIO_001122 .
}

dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_provenance {
  dgn-np:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_assertion dcterms:description
      "[A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients ]. 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:14718708;
    prov:wasDerivedFrom dgn-void:lhgdn-20090331;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP150861.RAWoIbIJbneKWiEEqZ2xPb4oFV3Nbgu8QAFfGKJANyhu4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:20+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" .
}