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English
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For å registrere i Cristin må du være vitenskapelig eller administrativt ansatt.
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2020
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1. |
Velasco Pinto, Kelly; St-Louis, Johanna Lüdeke; Hovland, Henrikke Nilsen; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. The Journal of Inherited Metabolic Disease (JIMD) 2020 s. 1-13 UiB HAUKELAND
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