Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

Ferdy van Geest, Marcel Meima, Kyra Stuurman, NI Wolf, MS van der Knaap, CF Lorea, FO Poswar, F Vairo, N Brunetti-Pierri, G Cappuccio, P Bakhtiani, SA de Munnik, Robin Peeters, Edward Visser, Stefan Groeneweg

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Biochemistry, Genetics and Molecular Biology