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Wiley, Journal of Inherited Metabolic Disease, 1(44), p. 240-252, 2020

DOI: 10.1002/jimd.12309

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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

Journal article published in 2020 by Kelly Velasco ORCID, Johanna L. St‐Louis, Henrikke N. Hovland, Nels Thompson, Åsta Ottesen, Man Hung Choi, Line Pedersen, Pål R. Njølstad, Thomas Arnesen ORCID, Karianne Fjeld, Ingvild Aukrust, Line M. Myklebust, Anders Molven ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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