http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_head http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_provenance http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_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/gene-disease-association.ttl#DGN818c35d1a05ff64b01509429c144eac2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/54840 http://rdf.disgenet.org/gene-disease-association.ttl#DGN818c35d1a05ff64b01509429c144eac2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0543874 http://rdf.disgenet.org/gene-disease-association.ttl#DGN818c35d1a05ff64b01509429c144eac2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_provenance http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://purl.org/dc/terms/description [It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15174536 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/dc/terms/created 2014-10-02T12:38:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP640239.RAbKhVD-xUC0Rhj-_aV2NViVxwazfLubnAk2C7G9DHbKs http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0