http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_head
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://identifiers.org/ncbigene/4942
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/C0018425
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/DGN1b6c388b85835c81cfb989d2024c4ebd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4942
http://rdf.disgenet.org/resource/gda/DGN1b6c388b85835c81cfb989d2024c4ebd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018425
http://rdf.disgenet.org/resource/gda/DGN1b6c388b85835c81cfb989d2024c4ebd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://purl.org/dc/terms/description
[The purpose of this study was to characterize the mutant enzyme in nine patients with gyrate atrophy of the choroid and retina associated with ornithine aminotransferase (OAT) deficiency, to elucidate the mechanism of response to pyridoxine in four pyridoxine-responsive patients, and to determine the extent of genetic heterogeneity in both groups of patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_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/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/2916580
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_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/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/dc/terms/created
2016-05-13T12:51:34+02:00
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1298416.RA_pZ5GB6bEj6G6VpSk_mFhK6xZXwaamHlwZYKfuJ-AGA
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