Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_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." NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_assertion evidence source_evidence_curated NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_assertion SIO_000772 23832012 NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_assertion wasDerivedFrom uniprot-20130724 NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_assertion wasGeneratedBy ECO_0000218 NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5909.RAXGokb-JQVxCHLIHOMd4pEKhhZmylDaJEQ-UJxvKltXM130_provenance.