@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww> .
@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:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_head {
   this: np:hasAssertion dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_assertion ;
    np:hasProvenance dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_provenance ;
    np:hasPublicationInfo dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_assertion a np:Assertion .
  dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_provenance a np:Provenance .
  dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_assertion {
   miriam-gene:4671 a ncit:C16612 .
  lld:C0026847 a ncit:C7057 .
  dgn-gda:DGN4f41c53a9707aa0235bc0db695b99f4c sio:SIO_000628 miriam-gene:4671 , lld:C0026847 ;
    a sio:SIO_001121 .
}
dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_provenance {
   dgn-np:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_assertion dcterms:description "[The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and retrospective review of case notes.]. 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:9713008 ;
    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:NP1402313.RA3twqdXg9_A2EilYqQiVz_JXIRvYK46sBVET92ixl4Ww130_publicationInfo {
   this: dcterms:created "2016-05-13T12:52:21+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: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" .
}