@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY> .
@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:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_head {
  this: np:hasAssertion dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_assertion;
    np:hasProvenance dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_provenance;
    np:hasPublicationInfo dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_assertion a np:Assertion .
  
  dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_provenance a np:Provenance .
  
  dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_assertion {
  miriam-gene:1589 a ncit:C16612 .
  
  lld:C0001627 a ncit:C7057 .
  
  dgn-gda:DGN1e81e7159c03c43d36524c977555826b sio:SIO_000628 miriam-gene:1589, lld:C0001627;
    a sio:SIO_001121 .
}

dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_provenance {
  dgn-np:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_assertion dcterms:description
      "[To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene.]. 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:21117955;
    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:NP184194.RACSTvoQXCDmq0FTMiBCXOr8p5jdygt34ZAYb6Gqm_7MY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:39+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" .
}