@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc> .
@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:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_head {
  this: np:hasAssertion dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_assertion;
    np:hasProvenance dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_provenance;
    np:hasPublicationInfo dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_assertion a np:Assertion .
  
  dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_provenance a np:Provenance .
  
  dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_assertion {
  miriam-gene:5313 a ncit:C16612 .
  
  lld:C1387532 a ncit:C7057 .
  
  dgn-gda:DGNc370d3cd1d91bc6aa2df3c119d607144 sio:SIO_000628 miriam-gene:5313, lld:C1387532;
    a sio:SIO_001122 .
}

dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_provenance {
  dgn-np:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_assertion dcterms:description
      "[ SSCP procedure followed by direct gene sequencing in positive cases is fast and simple enough to allow the identification of PK deficient variants, avoiding the need of biochemical characterisation of semipurified deficient enzyme, which is more cumbersome and time consuming. In addition, the PCR-ER method is a very useful tool for screening of the most frequent molecular variants, as well as, for the detection of the carrier condition of this enzymopathy (family studies).]. 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:10374175;
    prov:wasDerivedFrom dgn-void:gad-20130706;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP62370.RAfOpGbNmLmjtPJ8Q1LPlhIFvs94bWKeEPExMHkjGWEZc130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:29+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" .
}