@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_head {
  this: np:hasAssertion dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_assertion;
    np:hasProvenance dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_provenance;
    np:hasPublicationInfo dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_assertion a np:Assertion .
  
  dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_provenance a np:Provenance .
  
  dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_assertion {
  miriam-gene:6638 a ncit:C16612 .
  
  lld:C0270764 a ncit:C7057 .
  
  dgn-gda:DGN95110787b1df414ac3831c7521662c2b sio:SIO_000628 miriam-gene:6638, lld:C0270764;
    a sio:SIO_001121 .
}

dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_provenance {
  dgn-np:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_assertion dcterms:description
      "[A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated.]. 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:12571787;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP238533.RAJbRGTCA1It3i7COZdhaTuMN1ynhI5ODZVGfMgCQbf1Y130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:13+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}