http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_head http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_provenance http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://identifiers.org/ncbigene/10249 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/C0018790 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/DGNdadebfaddb1886809f7ca114266a2e40 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10249 http://rdf.disgenet.org/resource/gda/DGNdadebfaddb1886809f7ca114266a2e40 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018790 http://rdf.disgenet.org/resource/gda/DGNdadebfaddb1886809f7ca114266a2e40 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_provenance http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_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/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_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/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10434311 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 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/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/dc/terms/created 2016-05-13T12:43:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP259420.RAJzBIakaw1u0r1hH7dnT4d8w1j2M7QTGkZe0hL2sKqnI 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