http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#head http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#assertion http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#provenance http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#assertion http://rdf.disgenet.org/resource/gda/DGNc7c03549cb709d9259eb7b2b4e862d43 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54840 http://rdf.disgenet.org/resource/gda/DGNc7c03549cb709d9259eb7b2b4e862d43 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3489733 http://rdf.disgenet.org/resource/gda/DGNc7c03549cb709d9259eb7b2b4e862d43 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#provenance http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#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/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#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/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15164193 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#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/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/dc/terms/created 2017-10-17T13:18:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1326657.RA701If7vkS14o3ixw3vky5oCBBWk4-L0guqep7Wn3PYM 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