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- source_evidence_literature type ECO_0000212 NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_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." NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_assertion evidence source_evidence_literature NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_assertion SIO_000772 22057234 NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_assertion wasDerivedFrom befree-2016 NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_assertion wasGeneratedBy ECO_0000203 NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP936558.RAKoMWiz9X-iWmtutKu3JXCB3zOLNPWuEgxPHOJj83NBQ130_provenance.