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    An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA

    An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA by Sandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, Vincent Desportes, David Cheillan, Stuart E. H. Moore, Isabelle Chantret

    Published 2025-02-01
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