http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_head http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_assertion http://identifiers.org/ncbigene/27040 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/DGN8dba206f48e6a45ef67d5a4655fc6939 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/27040 http://rdf.disgenet.org/resource/gda/DGN8dba206f48e6a45ef67d5a4655fc6939 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751435 http://rdf.disgenet.org/resource/gda/DGN8dba206f48e6a45ef67d5a4655fc6939 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_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/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_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/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16972176 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_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/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/dc/terms/created 2016-05-13T12:46:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP569288.RAplIXjwfWQNf-hd-j4RmhxctHGReryxAmuzhd2BPdfmQ 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