@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM> .
@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:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_head {
  this: np:hasAssertion dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_assertion;
    np:hasProvenance dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_provenance;
    np:hasPublicationInfo dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_assertion a np:Assertion .
  
  dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_provenance a np:Provenance .
  
  dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_assertion {
  miriam-gene:450095 a ncit:C16612 .
  
  lld:C0587246 a ncit:C7057 .
  
  dgn-gda:DGNc4a23e0b3d39da68bf9d3ce2f53eb078 sio:SIO_000628 miriam-gene:450095, lld:C0587246;
    a sio:SIO_001121 .
}

dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_provenance {
  dgn-np:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_assertion dcterms:description
      "[The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed.]. 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:18812441;
    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:NP350443.RAGSn8ibI6zqNFC2LuZ6UCuzz2kzgrYOleYJvPgBdprlM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:25+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" .
}