@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0> .
@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:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_head {
  this: np:hasAssertion dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion;
    np:hasProvenance dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance;
    np:hasPublicationInfo dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion a np:Assertion .
  
  dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance a np:Provenance .
  
  dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion {
  miriam-gene:6792 a ncit:C16612 .
  
  lld:C2748910 a ncit:C7057 .
  
  dgn-gda:DGNeb54297aa2e5da03c2b13a7b093a217b sio:SIO_000628 miriam-gene:6792, lld:C2748910;
    a sio:SIO_001121 .
}

dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_provenance {
  dgn-np:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_assertion dcterms:description
      "[We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).]. 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:17993579;
    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:NP547113.RA1mkJJMQ5RmuKaDvG9uKK1hLX7p6IoRyuDpqD0jQw-X0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:30+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" .
}