Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP33875.RALciHtmUMRH8umgv4l1EqKq0z6s8Zk8n7zoexs34V63A#assertion> ?p ?o ?g. }
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- assertion description "[X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 8107717 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.