@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4> .
@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/v3.0.0/void/> .

dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_head {
  this: np:hasAssertion dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_assertion;
    np:hasProvenance dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_provenance;
    np:hasPublicationInfo dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_assertion a np:Assertion .
  
  dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_provenance a np:Provenance .
  
  dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_assertion {
  miriam-gene:450095 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGN322b47456216f386d95c7107a543689a sio:SIO_000628 miriam-gene:450095, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_provenance {
  dgn-np:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_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-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP1001983.RAoC4ZL9B2AbW0_2OfuhYBS4O9SPjw8FD4LweNHbhtfO4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:47:59+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}