@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo> .
@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:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_head {
  this: np:hasAssertion dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_assertion;
    np:hasProvenance dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_provenance;
    np:hasPublicationInfo dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_assertion a np:Assertion .
  
  dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_provenance a np:Provenance .
  
  dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_assertion {
  miriam-gene:2632 a ncit:C16612 .
  
  lld:C0270971 a ncit:C7057 .
  
  dgn-gda:DGN40e2f40596284a50babf9880aac99144 sio:SIO_000628 miriam-gene:2632, lld:C0270971;
    a sio:SIO_001121 .
}

dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_provenance {
  dgn-np:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_assertion dcterms:description
      "[This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the 'molecular severity' of the mutation.]. 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:20833045;
    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:NP419979.RAYwDC1opVO1y0SfICc0aF_Tnh8WGjbJQ1y4OSKiXUMdo130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:44+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" .
}