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- source_evidence_literature type ECO_0000212 NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_assertion description "[The recent observation that the mutation underlying a number of genetic diseases including fragile sites, FRAXA and FRAXE (associated with mental retardation), myotonic dystrophy, spinal and bulbar muscular atrophy (Kennedy's disease), Huntington's disease and spinocerebellar ataxia type 1 are caused by the expansion of a trinucleotide repeat sequence will lead to interest in the identification of such sequences in regions related to other diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_assertion evidence source_evidence_literature NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_assertion SIO_000772 8162055 NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_assertion wasDerivedFrom befree-2016 NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_assertion wasGeneratedBy ECO_0000203 NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1334243.RAA01S59Io10xHu4DdrvM33nonC59ylFP8LoM508q8leE130_provenance.