@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE> .
@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:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_head {
  this: np:hasAssertion dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion;
    np:hasProvenance dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance;
    np:hasPublicationInfo dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion a np:Assertion .
  
  dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance a np:Provenance .
  
  dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion {
  miriam-gene:9990 a ncit:C16612 .
  
  lld:C0795950 a ncit:C7057 .
  
  dgn-gda:DGNc75d0eb6b00ce68009c1d08885d3f833 sio:SIO_000628 miriam-gene:9990, lld:C0795950;
    a sio:SIO_001121 .
}

dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_provenance {
  dgn-np:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_assertion dcterms:description
      "[In contrast to the classic phenotype of the Andermann syndrome linked to truncating KCC3 mutations the phenotype and the course of the disease linked to the missense mutation appeared to be different (i.e., showing additional features like diffuse and widespread white matter abnormalities).]. 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:16606917;
    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:NP660913.RAthXFZWekGRo2DgchHH4WNt895jCt5gneq3QrlZcateE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:39+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" .
}