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Functional evaluation of sixteen SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro

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Description scientific article published on 02 September 2020
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author: Pål R Njølstad  Kelly Velasco  Ingvild Aukrust  Anders Molven  Karianne Fjeld 

Publication date September 2, 2020
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