http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#head http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#assertion http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#provenance http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#assertion http://rdf.disgenet.org/resource/gda/DGN91421010c3f0a3bae33469ddd35b12e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2332 http://rdf.disgenet.org/resource/gda/DGN91421010c3f0a3bae33469ddd35b12e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714756 http://rdf.disgenet.org/resource/gda/DGN91421010c3f0a3bae33469ddd35b12e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#provenance http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#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/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#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/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15111000 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#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/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/dc/terms/created 2017-10-17T13:12:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP412313.RAIMTv8np9BEPyaKZ4k8mULiRZkSfq0oMgck7D2xOiaQo 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