@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM> .
@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:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_head {
  this: np:hasAssertion dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_assertion;
    np:hasProvenance dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_provenance;
    np:hasPublicationInfo dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_assertion a np:Assertion .
  
  dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_provenance a np:Provenance .
  
  dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_assertion {
  miriam-gene:5649 a ncit:C16612 .
  
  lld:C0019621 a ncit:C7057 .
  
  dgn-gda:DGNf25e895e7103a3fea7bf86c3618fb040 sio:SIO_000628 miriam-gene:5649, lld:C0019621;
    a sio:SIO_001121 .
}

dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_provenance {
  dgn-np:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_assertion dcterms:description
      "[We conclude that LCH is within the spectrum of DCX and LIS1 mutations, that LCH associated with RELN mutation is distinguished by the severity of cerebellar and hippocampal involvement, and that several distinctive patterns indicate additional genetic mutations that can produce LCH.]. 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:11748497;
    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:NP612544.RAPIqi60gVSDahDM8QZAEXtBAysosXfurJvZmsFnzXAoM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:10+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" .
}