@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw> .
@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:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_head {
  this: np:hasAssertion dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_assertion;
    np:hasProvenance dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_provenance;
    np:hasPublicationInfo dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_assertion a np:Assertion .
  
  dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_provenance a np:Provenance .
  
  dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_assertion {
  miriam-gene:6607 a ncit:C16612 .
  
  lld:C0026847 a ncit:C7057 .
  
  dgn-gda:DGN5e30ee201c1fac1a918c407cebe3acbb sio:SIO_000628 miriam-gene:6607, lld:C0026847;
    a sio:SIO_001121 .
}

dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_provenance {
  dgn-np:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_assertion dcterms:description
      "[Our results suggest that extent of deletions encompassing H4F5, SMN1, NAIP and copy number of SMN2 gene can modify the SMA phenotype, thus accounting for the different clinical subtypes of the disease.]. 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:16000867;
    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:NP502740.RArYxZ1yQz-sm-4Nql3N750sNZM22mmTGE737hQYsUVDw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:32+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" .
}