@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU> .
@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:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_head {
  this: np:hasAssertion dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_assertion;
    np:hasProvenance dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_provenance;
    np:hasPublicationInfo dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_assertion a np:Assertion .
  
  dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_provenance a np:Provenance .
  
  dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_assertion {
  miriam-gene:2741 a ncit:C16612 .
  
  lld:C1835614 a ncit:C7057 .
  
  dgn-gda:DGNb2a3372277fbf4bf385f47cee3450464 sio:SIO_000628 miriam-gene:2741, lld:C1835614;
    a sio:SIO_001121 .
}

dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_provenance {
  dgn-np:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_assertion dcterms:description
      "[Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the alpha(1) subunit of the glycine receptor (GLRA1) underwent single voxel (1)H magnetic resonance spectroscopy (MRS) of the brainstem and an area of frontal cortex and white matter using a method that allows absolute quantification of metabolites.]. 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:14673895;
    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:NP496212.RA91VH2Z5qTE2Yj8mrLOCBdBtX3d4nUZbJfZUeAMb-FTU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:56+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" .
}