@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU> .
@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:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_head {
  this: np:hasAssertion dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_assertion;
    np:hasProvenance dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_provenance;
    np:hasPublicationInfo dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_assertion a np:Assertion .
  
  dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_provenance a np:Provenance .
  
  dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_assertion {
  miriam-gene:847 a ncit:C16612 .
  
  lld:C0018790 a ncit:C7057 .
  
  dgn-gda:DGN9843dcdd3e66eee0999ef8460dd04298 sio:SIO_000628 miriam-gene:847, lld:C0018790;
    a sio:SIO_001122 .
}

dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_provenance {
  dgn-np:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_assertion dcterms:description
      "[(ii) The observation of an expanded spinocerebellar ataxia (SCA)1 allele with an unusual pattern of multiple CAT interruptions showed that cryptic sequence variations are critical not only for sequence length stability but also for the expression of the disease phenotype.]. 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:10434311;
    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:NP283320.RA0VvT04hm7QWnoSBF8NCLiJ1TdC4bmtCWpcxx0c_L3VU130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:21+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" .
}