Reanalysis of undiagnosed disease reveals formerly recessive congenital disorder of glycosylation, type Iw due to de novo STT3A variant

Kimberly Ezell, Yutaka Furuta,Rory Tinker, Brian Corner, Serena Neumann,Rizwan Hamid,Joy Cogan, Tony Capra,David Rinker, Eniko Epivnick,Devin Oglesbee,John Phillips

Molecular Genetics and Metabolism(2024)

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