@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE> .
@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:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_head {
  this: np:hasAssertion dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_assertion;
    np:hasProvenance dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_provenance;
    np:hasPublicationInfo dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_assertion a np:Assertion .
  
  dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_provenance a np:Provenance .
  
  dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_assertion {
  miriam-gene:51360 a ncit:C16612 .
  
  lld:C0085636 a ncit:C7057 .
  
  dgn-gda:DGN84e1a7fcb12de941b9a7c1c01417e136 sio:SIO_000628 miriam-gene:51360, lld:C0085636;
    a sio:SIO_001121 .
}

dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_provenance {
  dgn-np:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_assertion dcterms:description
      "[Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as intellectual disability, vertebral and renal anomalies, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation.]. 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:22105905;
    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:NP156429.RAcJfyPKTowjrATM_BEZFCzcRJSctHXRy5EYds2EhberE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:24+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" .
}