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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco K, St-Louis JL, Hovland HN, Thompson N, Ottesen Å, Choi MH, Pedersen L, Njølstad PR, Arnesen T, Fjeld K, Aukrust I, Myklebust LM, Molven A. Velasco K, et al. Among authors: st louis jl. J Inherit Metab Dis. 2021 Jan;44(1):240-252. doi: 10.1002/jimd.12309. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32876354