Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_assertion description "[Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_assertion evidence source_evidence_curated NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_assertion SIO_000772 19731322 NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_assertion wasDerivedFrom uniprot-2016 NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_assertion wasGeneratedBy ECO_0000218 NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5917.RAjonDuQr8qhJIHrZbSgibvoIRnUErP5M4oeVuGTb2HUk130_provenance.