Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_assertion description "[Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_assertion evidence source_evidence_curated NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_assertion SIO_000772 23832012 NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_assertion wasDerivedFrom ctd_human-20150221 NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_assertion wasGeneratedBy ECO_0000218 NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP29551.RAQPf85ty7swSVUWE_flKo0_OF9J1Z8m5SMBLeW1kyFVM130_provenance.