http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#head http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#assertion http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#provenance http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#assertion http://rdf.disgenet.org/resource/gda/DGN4377eac09d461c276617337afcf2481d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/847 http://rdf.disgenet.org/resource/gda/DGN4377eac09d461c276617337afcf2481d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0087012 http://rdf.disgenet.org/resource/gda/DGN4377eac09d461c276617337afcf2481d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#provenance http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#assertion http://purl.org/dc/terms/description [(ii) The observation of an expanded spinocerebellar ataxia (SCA)1 allele with an unusual pattern of multiple CAT interruptions showed that cryptic sequence variations are critical not only for sequence length stability but also for the expression of the disease phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#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/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10434311 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#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/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/dc/terms/created 2017-10-17T13:11:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP162155.RAVBWykADPY2bz6Kr-TIKHrHdTPK4zvj8v5_q2g_o8s8Y 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