http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_head http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://identifiers.org/ncbigene/26278 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/C0026838 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/DGN2460798d9230f6fefe3bbc8b96d3ccc9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26278 http://rdf.disgenet.org/resource/gda/DGN2460798d9230f6fefe3bbc8b96d3ccc9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026838 http://rdf.disgenet.org/resource/gda/DGN2460798d9230f6fefe3bbc8b96d3ccc9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://purl.org/dc/terms/description [A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_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/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14718708 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/lhgdn-20090331 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/lhgdn-20090331 http://purl.org/pav/importedOn 2009-03-31 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/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/dc/terms/created 2016-05-13T12:43:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP203037.RAXlYbCow1etX26kiaq4y5iLfLuwM5jWRQMq_dQx_KbyQ 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