@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ> .
@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:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_head {
  this: np:hasAssertion dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_assertion;
    np:hasProvenance dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_assertion a np:Assertion .
  
  dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_provenance a np:Provenance .
  
  dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_assertion {
  miriam-gene:6606 a ncit:C16612 .
  
  lld:C0026847 a ncit:C7057 .
  
  dgn-gda:DGN8042bc9d6e0e93b0ee6d48c0c03516f8 sio:SIO_000628 miriam-gene:6606, lld:C0026847;
    a sio:SIO_001121 .
}

dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_provenance {
  dgn-np:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_assertion dcterms:description
      "[While the confirmation of SMN gene deletions is very useful in cases with diagnostic doubts, caution is required when offering prenatal prediction with regard to SMA 5q in families with atypical features.]. 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:8677029;
    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:NP1352539.RAnFV4itwIKjPLAHha2QMPurhfKiaSDOaostaYVFdiadQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:59+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" .
}