http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#head http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#assertion http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#provenance http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#assertion http://rdf.disgenet.org/resource/gda/DGNd09fb073845fab2dab52fe7152f56be2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8504 http://rdf.disgenet.org/resource/gda/DGNd09fb073845fab2dab52fe7152f56be2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0282527 http://rdf.disgenet.org/resource/gda/DGNd09fb073845fab2dab52fe7152f56be2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#provenance http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#assertion http://purl.org/dc/terms/description [This is not only a newly identified milder PBD caused by a mutated PEX3 gene but also the first report of a Japanese patient with IRD who had not been diagnosed until over 30years of age, which suggests there must be more variant PBD in patients with degenerative neurologic disorder, and to bring them to light is necessary.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#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/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23245813 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#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/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/dc/terms/created 2017-10-17T13:17:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1146773.RAAVZtUG9QKv08FY8TGJLGMq_8Vx0yVCBxZp_uLbaQl-g 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