@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc> .
@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/v4.0.0/void/> .

dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_head {
  this: np:hasAssertion dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_assertion;
    np:hasProvenance dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_provenance;
    np:hasPublicationInfo dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_assertion a np:Assertion .
  
  dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_provenance a np:Provenance .
  
  dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_assertion {
  miriam-gene:10273 a ncit:C16612 .
  
  lld:C0338656 a ncit:C7057 .
  
  dgn-gda:DGN70235e8d050650e02e74f4837892ce75 sio:SIO_000628 miriam-gene:10273, lld:C0338656;
    a sio:SIO_001122 .
}

dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_provenance {
  dgn-np:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_assertion dcterms:description
      "[With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A &gt; G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G &gt; A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A &gt; T, p.Lys144Ter) in another patient.]. 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:25258038;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1223835.RAwsAschCwoDyCxmLRVwylRs1LNS1wkLKo4LkeebLHKyc130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:00+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}