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Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.

Kas SM, Mundra PA, Smith DL, Marais R
Sci Rep. 2023 Oct 17;13(1):17648. doi: 10.1038/s41598-023-42178-y. (Link opens in a new window) PubMed (Link opens in a new window) Article

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