http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_head http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_provenance http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://identifiers.org/ncbigene/8140 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/DGNaa4e5f5d4a7c88559b2314ccbc7cf56d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8140 http://rdf.disgenet.org/resource/gda/DGNaa4e5f5d4a7c88559b2314ccbc7cf56d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751435 http://rdf.disgenet.org/resource/gda/DGNaa4e5f5d4a7c88559b2314ccbc7cf56d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_provenance http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://purl.org/dc/terms/description [As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_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/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16972176 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_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/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/dc/terms/created 2016-05-13T12:46:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP569285.RA1_R9uA5-86sLN6tGMGrgz0ZiK8R95dV7IbQ3fOJwug0 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