Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_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." NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_assertion evidence source_evidence_curated NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_assertion SIO_000772 22057234 NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_assertion wasDerivedFrom ctd_human-20150221 NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_assertion wasGeneratedBy ECO_0000218 NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP18104.RABX-ZgzL2cRARN6985Jwp7oEvK-h5BbrD7_TmkifuXvo130_provenance.