http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_head http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_assertion http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_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/DGN6d3779a9b78c97a313eb6dd3e7b1b64c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5053 http://rdf.disgenet.org/resource/gda/DGN6d3779a9b78c97a313eb6dd3e7b1b64c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751435 http://rdf.disgenet.org/resource/gda/DGN6d3779a9b78c97a313eb6dd3e7b1b64c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_assertion http://purl.org/dc/terms/description [To determine the molecular basis of phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) and to establish correlations between phenylalanine hydroxylase (PAH) genotypes and biochemical and clinical phenotypes in an ethnically diverse US population, PAH genotypes were determined in 35 patients with PKU or HPA and 1 carrier from the Medical Genetics Clinic of the Emory University School of Medicine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_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/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8632937 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_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/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/dc/terms/created 2016-05-13T12:51:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1349802.RAiYjYg_MyLRFtj337HPl2sEsVW3bwovVjlAncg3bOke8 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