http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_head http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_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/C0751436 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/resource/gda/DGNebd94424856f66552842a6458e34f0df http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5860 http://rdf.disgenet.org/resource/gda/DGNebd94424856f66552842a6458e34f0df http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751436 http://rdf.disgenet.org/resource/gda/DGNebd94424856f66552842a6458e34f0df http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_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/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8819618 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/dc/terms/created 2015-08-25T14:44:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP662585.RAqVTNQ1q7bEvt94QgcUgyd6CfBQaKXWnlECW-2_QL70Q http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0