@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc> .
@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:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_head {
  this: np:hasAssertion dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_assertion;
    np:hasProvenance dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_provenance;
    np:hasPublicationInfo dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_assertion a np:Assertion .
  
  dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_provenance a np:Provenance .
  
  dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_assertion {
  miriam-gene:10381 a ncit:C16612 .
  
  lld:C1563719 a ncit:C7057 .
  
  dgn-gda:DGNe8dbb25d5867c37cc8aa0ccc9500f4a6 sio:SIO_000628 miriam-gene:10381, lld:C1563719;
    a sio:SIO_001121 .
}

dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_provenance {
  dgn-np:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_assertion dcterms:description
      "[We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting.]. 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:23378218;
    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:NP914429.RAk8V7alcDAi-VcotTlboZaP8nj8D2G3PIgLF1vxOKcwc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:21+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: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" .
}