@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM> .
@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:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_head {
  this: np:hasAssertion dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_assertion;
    np:hasProvenance dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_provenance;
    np:hasPublicationInfo dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_assertion a np:Assertion .
  
  dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_provenance a np:Provenance .
  
  dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_assertion {
  miriam-gene:7319 a ncit:C16612 .
  
  lld:C3161329 a ncit:C7057 .
  
  dgn-gda:DGN49c58d3c0ce913ba2126732780ae5703 sio:SIO_000628 miriam-gene:7319, lld:C3161329;
    a sio:SIO_001121 .
}

dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_provenance {
  dgn-np:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_assertion dcterms:description
      "[Hitherto only five familial point mutations and four different deletions including UBE2A have been reported in the literature.We present eight additional individuals from five families with UBE2A associated ID - three males from a consanguineous family, in whom we identified a small deletion of only 7.1 kb encompassing the first three exons of UBE2A, two related males with a UBE2A missense mutation in exon 4, a patient with a de novo nonsense mutation in exon 6, and two sporadic males with larger deletions including UBE2A.]. 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:24053514;
    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:NP764583.RArBWX43JjzfRAWFBRpuVAb1r8b8Lwj3HBEBm1V72AmoM130_publicationInfo {
  this: dcterms:created "2015-08-25T14:45:21+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" .
}