http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#head http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#assertion http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#provenance http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#assertion http://rdf.disgenet.org/resource/gda/DGN2bd3c8b0fd0688faa406bea065adf937 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2332 http://rdf.disgenet.org/resource/gda/DGN2bd3c8b0fd0688faa406bea065adf937 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0524851 http://rdf.disgenet.org/resource/gda/DGN2bd3c8b0fd0688faa406bea065adf937 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#provenance http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#assertion http://purl.org/dc/terms/description [FMR1 premutation alleles uniquely produce FMR1 transcripts with an elongated CGG repeat, leading to the hypothesis that premutant transcripts cause the neurodegenerative disease in carriers.Recently Jin et al. demonstrated, in Drosophila, that FMR1 premutation RNA causes neurodegeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#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/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15111000 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#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/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/dc/terms/created 2017-10-17T13:12:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412910.RAcqBVD4EUEkDkUWvWzKC-TDkDCyaOEWyDM3nbobx_WxY 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