http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_head http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://identifiers.org/ncbigene/5053 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/C0751435 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/DGNa7a7111c18054d59b49e264c35639033 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5053 http://rdf.disgenet.org/resource/gda/DGNa7a7111c18054d59b49e264c35639033 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751435 http://rdf.disgenet.org/resource/gda/DGNa7a7111c18054d59b49e264c35639033 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_provenance http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://purl.org/dc/terms/description [The genetic heterogeneity at the phenylalanine hydroxylase (PAH) locus was studied in 88 families including 93 of the 105 children with phenylketonuria (PKU) or hyperphenylalaninemia (HPA) detected through the Swedish neonatal screening program from 1966 to the end of 1986.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1674714 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/dc/terms/created 2016-05-13T12:45:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP552846.RANA3YZle81QTSoyJ6MbhBz3WJdRaSgztA9mdsP5EcX4A http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0