http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#head http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#assertion http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#provenance http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#assertion http://rdf.disgenet.org/resource/gda/DGN82ed9a98489597b2777c2c1a81340cfe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6310 http://rdf.disgenet.org/resource/gda/DGN82ed9a98489597b2777c2c1a81340cfe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024408 http://rdf.disgenet.org/resource/gda/DGN82ed9a98489597b2777c2c1a81340cfe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#provenance http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#assertion http://purl.org/dc/terms/description [Importantly, our molecular findings indicate: (1) an absence of MJD expanded repeats underlying SCA; (2) the major disease in this group is due to mutations in the SCA1 gene; and (3) the familial disorder in the majority population group (i.e. mixed ancestry) in the Western Cape region of South Africa is most likely to be the result of two distinct founder events.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#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/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9225982 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#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/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/dc/terms/created 2017-10-17T13:16:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP921962.RA_DoxxcXWrE_Nh8KgyoCbUo_UAOV4DY3TjgDPDx_9QSs 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