http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#head http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#provenance http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://rdf.disgenet.org/resource/gda/DGNbbe6b48efa89a69a958ebbf3fcfdf457 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4942 http://rdf.disgenet.org/resource/gda/DGNbbe6b48efa89a69a958ebbf3fcfdf457 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018425 http://rdf.disgenet.org/resource/gda/DGNbbe6b48efa89a69a958ebbf3fcfdf457 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#provenance http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://purl.org/dc/terms/description [Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10617919 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/dc/terms/created 2017-10-17T13:15:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP773428.RAr3TYcaU9c2MIJUAaQm8C9-KW0NDV9aYleZLQzrqbT5g http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0