http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#head http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#assertion http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#provenance http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#assertion http://rdf.disgenet.org/resource/gda/DGN2d7277ad6e53ecdfbe0abfa5aae1a7c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3708 http://rdf.disgenet.org/resource/gda/DGN2d7277ad6e53ecdfbe0abfa5aae1a7c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007758 http://rdf.disgenet.org/resource/gda/DGN2d7277ad6e53ecdfbe0abfa5aae1a7c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#provenance http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#assertion http://purl.org/dc/terms/description [Our results strongly confirm that ITPR1 is the causative gene for SCA15 and suggest that we need to investigate the point mutation in ITPR1 in the patients with autosomal dominant cerebellar ataxia and tremor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#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/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18579805 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#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/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/dc/terms/created 2017-10-17T13:14:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP607188.RAeXVOH47CgufDMNll17mSfCxeFL5FzU46kebL-q7iVZI 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