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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 16332676 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[identification of a novel KCNJ11 mutation associated with congenital hyperinsulinism that renders a missense mutation, F55L, in the Kir6.2 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.