http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_head http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_provenance http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://identifiers.org/ncbigene/54840 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/C0543874 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/DGN4ac126ca1885a31d9fdf1444f1146c55 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54840 http://rdf.disgenet.org/resource/gda/DGN4ac126ca1885a31d9fdf1444f1146c55 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0543874 http://rdf.disgenet.org/resource/gda/DGN4ac126ca1885a31d9fdf1444f1146c55 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_provenance http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://purl.org/dc/terms/description [Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_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/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15164193 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_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/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/dc/terms/created 2016-05-13T12:45:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP445804.RAPavDsO00yjcLpn8YJk32HAWLN0IhUXSV9PzIyr_0zB4 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