@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4> .
@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/v3.0.0/void/> .

dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_head {
  this: np:hasAssertion dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion;
    np:hasProvenance dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance;
    np:hasPublicationInfo dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion a np:Assertion .
  
  dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance a np:Provenance .
  
  dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion {
  miriam-gene:8905 a ncit:C16612 .
  
  lld:C1136249 a ncit:C7057 .
  
  dgn-gda:DGNb2b42bdddcb9d3d39c1e3a91a345aa0f sio:SIO_000628 miriam-gene:8905, lld:C1136249;
    a sio:SIO_001121 .
}

dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance {
  dgn-np:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion dcterms:description
      "[The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.]. 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:22210230;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:45:51+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}