@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U> .
@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:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_head {
   this: np:hasAssertion dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_assertion ;
    np:hasProvenance dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_provenance ;
    np:hasPublicationInfo dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_assertion a np:Assertion .
  dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_provenance a np:Provenance .
  dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_assertion {
   miriam-gene:51010 a ncit:C16612 .
  lld:C0085084 a ncit:C7057 .
  dgn-gda:DGN02a685bba9199938da19dfba2779a129 sio:SIO_000628 miriam-gene:51010 , lld:C0085084 ;
    a sio:SIO_001121 .
}
dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_provenance {
   dgn-np:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_assertion dcterms:description "[By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596).]. 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:22544365 ;
    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:NP978449.RAuNj9wG4kcDsOGVKS_P2ks42EbP_m0_O9Zgf2PAOcd7U130_publicationInfo {
   this: dcterms:created "2016-05-13T12:49:08+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" .
}