http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_head http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://identifiers.org/ncbigene/5860 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0751434 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7146c782a88f429179ef7a32cdbc7a2a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5860 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7146c782a88f429179ef7a32cdbc7a2a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751434 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7146c782a88f429179ef7a32cdbc7a2a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://purl.org/dc/terms/description [All variants of tetrahydrobiopterin deficiency can be differentiated from the classical phenylketonuria (PKU) by measurement of pterin metabolites in patients' urine, tetrahydrobiopterin loading test, and by dihydropteridine reductase activity in erythrocytes from the Guthrie card.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8819618 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/dc/terms/created 2014-10-02T12:36:54+02:00 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0