@prefix dcterms: .
@prefix this: .
@prefix sub: .
@prefix has-source: .
@prefix refers-to: .
@prefix gene-disease-association: .
@prefix xsd: .
@prefix np: .
@prefix wd: .
@prefix prov: .
@prefix pmid: .
@prefix pav: .
@prefix ensembl: .
@prefix omim: .
@prefix ncit: .
@prefix orcid: .
@prefix rdfs: .
sub:head {
this: np:hasAssertion sub:assertion;
np:hasProvenance sub:provenance;
np:hasPublicationInfo sub:publicationInfo;
a np:Nanopublication .
}
sub:assertion {
ensembl:ENSG00000134905 a ncit:C16612;
rdfs:label "CARS2" .
sub:association refers-to: ensembl:ENSG00000134905, omim:616672;
a gene-disease-association: .
}
sub:provenance {
pmid:25787132 dcterms:title "Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder." .
sub:assertion has-source: pmid:25787132 .
}
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 ;
pav:authoredBy orcid:0000-0001-6048-1457, orcid:0000-0002-7770-620X;
pav:createdBy orcid:0000-0001-7542-0286;
prov:wasGeneratedBy sub:activity .
}