Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP452093.RATaOoYZ8dQJbyjQGqoHPvZX2CuEHgGM7ZHDNzsRhpsMc#assertion> ?p ?o ?g. }
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- assertion description "[Missense mutations c.341A > T (p.Asp113Val) in exon 4 and c.663T > G (p.Asn220Lys) in exon 7 are associated with hereditary nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17041899 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.