http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#head http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#assertion http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#provenance http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#assertion http://rdf.disgenet.org/resource/gda/DGN2f6659592a3317a3da2470069c561c4a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/140805 http://rdf.disgenet.org/resource/gda/DGN2f6659592a3317a3da2470069c561c4a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0742468 http://rdf.disgenet.org/resource/gda/DGN2f6659592a3317a3da2470069c561c4a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#provenance http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#assertion http://purl.org/dc/terms/description [We present here the case of a female patient with a point mutation at nucleotide position T14484C, who suffered from relapsing episodes of visual loss of both eyes and consecutively developed Hashimoto thyroiditis as well as widespread demyelinating CNS lesions outside the visual system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#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/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15483043 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#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/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/dc/terms/created 2017-10-17T13:19:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1407498.RAp9ujW3kwix-W-guQ_qiKhYbCj3jHhpfgQ3Zo6Wr7xDo 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