@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U> .
@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:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_head {
  this: np:hasAssertion dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_assertion;
    np:hasProvenance dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_provenance;
    np:hasPublicationInfo dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_assertion a np:Assertion .
  
  dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_provenance a np:Provenance .
  
  dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_assertion {
  miriam-gene:2074 a ncit:C16612 .
  
  lld:C0043346 a ncit:C7057 .
  
  dgn-gda:DGN283d7ba45d37ab9b565ef9f4f2c683c1 sio:SIO_000628 miriam-gene:2074, lld:C0043346;
    a sio:SIO_001121 .
}

dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_provenance {
  dgn-np:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_assertion dcterms:description
      "[These data, together with fluorescence in situ hybridization analysis, demonstrated that the two siblings with XP as well as the CS patient were homozygous for the same CSB mutated allele, containing a silent C2830T change and a nonsense mutation C2282T converting Arg735 to a stop codon.]. 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:10767341;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP774929.RAUdvb9Rk1abVSYq5TwAT84RcfA6vOU0K6mCyT24Wh32U130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:48+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" .
}