@prefix this: <http://purl.org/np/RABerFuRvr2br_LLTHz_Zu20r288yjROXGJa27KATziAM> .
@prefix sub: <http://purl.org/np/RABerFuRvr2br_LLTHz_Zu20r288yjROXGJa27KATziAM#> .
@prefix has-source: <http://semanticscience.org/resource/SIO_000253> .
@prefix refers-to: <http://semanticscience.org/resource/SIO_000628> .
@prefix gene-disease-association: <http://semanticscience.org/resource/SIO_000983> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix wd: <https://www.wikidata.org/entity/> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pmid: <http://identifiers.org/pubmed/> .
@prefix pav: <http://purl.org/pav/> .
@prefix ensembl: <http://identifiers.org/ensembl/> .
@prefix omim: <http://identifiers.org/omim/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix orcid: <http://orcid.org/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
sub:head {
   this: np:hasAssertion sub:assertion ;
    np:hasProvenance sub:provenance ;
    np:hasPublicationInfo sub:publicationInfo ;
    a np:Nanopublication .
}
sub:assertion {
   ensembl:ENSG00000067704 a ncit:C16612 ;
    rdfs:label "IARS2" .
  sub:association refers-to: ensembl:ENSG00000067704 , omim:616007 ;
    a gene-disease-association: .
}
sub:provenance {
   pmid:25130867 dcterms:title "Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome." .
  sub:assertion has-source: pmid:25130867 .
}
sub:publicationInfo {
   sub:activity a prov:Activity ;
    prov:atLocation wd:Q1137652 .
  this: dcterms:created "2018-04-05T10:17:11.353+02:00"^^xsd:dateTime ;
    dcterms:rights <http://creativecommons.org/publicdomain/zero/1.0/> ;
    pav:authoredBy orcid:0000-0001-6048-1457 , orcid:0000-0002-7770-620X ;
    pav:createdBy orcid:0000-0001-7542-0286 ;
    prov:wasGeneratedBy sub:activity .
}