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- source_evidence_literature type ECO_0000212 NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_assertion description "[We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_assertion evidence source_evidence_literature NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_assertion SIO_000772 22057234 NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_assertion wasDerivedFrom befree-20150227 NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_assertion wasGeneratedBy ECO_0000203 NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP475269.RAx9tJa_-tobUZpa4ymVbSQ-P5X3Ojn60cInWGUz2xfEs130_provenance.