Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1306295.RAA_J2hNYCJa2LNDVZJhTZGO01Ei9xCwDG4cY-6fvlHBQ#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 25193871 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.