@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ> .
@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:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_head {
  this: np:hasAssertion dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion;
    np:hasProvenance dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance;
    np:hasPublicationInfo dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion a np:Assertion .
  
  dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance a np:Provenance .
  
  dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion {
  miriam-gene:28509 a ncit:C16612 .
  
  lld:C0007959 a ncit:C7057 .
  
  dgn-gda:DGNed280c581da0b27710c1201ee094d8fc sio:SIO_000628 miriam-gene:28509, lld:C0007959;
    a sio:SIO_001121 .
}

dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_provenance {
  dgn-np:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_assertion dcterms:description
      "[Reported onset phenomena consisted of confusion, headache, focal neurological symptoms and nausea; (ii) many patients show an early and severe sensorineural hearing loss; (iii) although they have mothers with the adult onset type, the four affected subjects from the youngest generation do not show any signs or symptoms of childhood or congenital myotonic dystrophy; (iv) the neuropathy meets the criteria of an intermediate type Charcot-Marie-Tooth (CMT), and is more severe in males; and (v) patients presented with an expanded fragment at the DM1 CTG repeat but this allele was refractory to PCR amplification and triplet repeat primed PCR at the 3' end of the array, indicating the existence of an additional lesion at the 3' end.]. 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:19321466;
    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:NP637769.RAW4nhkQFPzPJKT3uO85qw_mP5P_OCWiIrSJcmP3MCEAQ130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:24+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" .
}