Associated Papers
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Raynor A et al.
Journal of Inherited Metabolic Disease, 2025
Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu).
Fang Y et al.
Frontiers in Genetics, 2023
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