@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4> .
@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:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_head {
  this: np:hasAssertion dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_assertion;
    np:hasProvenance dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_provenance;
    np:hasPublicationInfo dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_assertion a np:Assertion .
  
  dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_provenance a np:Provenance .
  
  dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_assertion {
  miriam-gene:26580 a ncit:C16612 .
  
  lld:C0037771 a ncit:C7057 .
  
  dgn-gda:DGNed7b242bc3783e7d9076d1212f3fceaa sio:SIO_000628 miriam-gene:26580, lld:C0037771;
    a sio:SIO_001121 .
}

dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_provenance {
  dgn-np:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_assertion dcterms:description
      "[The clinical patterns in this family include presentation with lower-limb and hand-muscle involvement early in the disease course as well as the presence of Babinski signs with nonprogressive mild spastic paraparesis, resembling classic Silver syndrome and dHMN type V. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia.]. 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:17486577;
    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:NP233589.RAQqJikBosMhnGfcyF95o6lUQ8mGr-ruEydoALgLHS2B4130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:11+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" .
}