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Pathogenic de novo variants in the X‐linked gene SLC35A2 encoding the major Golgi‐localized UDP‐galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2‐congenital disorders of glycosylation (CDG; formerly CDG‐IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the...
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