@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE> .
@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:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_head {
  this: np:hasAssertion dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_assertion;
    np:hasProvenance dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_provenance;
    np:hasPublicationInfo dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_assertion a np:Assertion .
  
  dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_provenance a np:Provenance .
  
  dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_assertion {
  miriam-gene:404672 a ncit:C16612 .
  
  lld:C0043346 a ncit:C7057 .
  
  dgn-gda:DGN63b5425961f221688d86cc0a635dce21 sio:SIO_000628 miriam-gene:404672, lld:C0043346;
    a sio:SIO_001121 .
}

dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_provenance {
  dgn-np:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_assertion dcterms:description
      "[Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.]. 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:14726016;
    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:NP428129.RAMyUk8_yc3O9op_ukXRQp9rXWgLy3s_ESMVwuTygzeqE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:59+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" .
}