@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q> .
@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/v4.0.0/void/> .

dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_head {
  this: np:hasAssertion dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_assertion;
    np:hasProvenance dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_provenance;
    np:hasPublicationInfo dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_assertion a np:Assertion .
  
  dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_provenance a np:Provenance .
  
  dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_assertion {
  miriam-gene:347733 a ncit:C16612 .
  
  lld:C0175754 a ncit:C7057 .
  
  dgn-gda:DGNff13e8d6e65f8426948e6d0c9204429a sio:SIO_000628 miriam-gene:347733, lld:C0175754;
    a sio:SIO_001121 .
}

dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_provenance {
  dgn-np:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_assertion dcterms:description
      "[This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function.]. 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:23495813;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1060639.RA00Y7-fWO2FI40ZjaRJ5YxG_PAuBpJVFMnap_DvcoR_Q130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:47+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}