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Molecular Genetics and Metabolism|August 3, 2024
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluationAlicia Vilas, Álvaro Briso-Montiano, Cristina Segovia-Falquina, et al.
Human Mutation|July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperonesCristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.
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