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)

CASE REPORT ON ATP6AP2-CDG. #raredisease @FrontGenetics https://t.co/HwNB5KwTvC

New Research: 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): Background: A rare X-linked hereditary condition known as… https://t.co/pdFYQ0C6Xa