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Human Mutation|December 9, 2025
Insights Into the Pathological Glycosylation Associated With COG6-CDGZuzana Pakanová, Maroš Krchňák, Marek Nemčovič, et al.
Human Mutation|April 29, 2026
De Novo TRIO Missense Variants Disrupt Ras-GEF Domains and Cause Congenital Ventriculomegaly and HydrocephalusNeel H Mehta, Evan Dennis, Garrett Allington, et al.
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