Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
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DOI: 10.1002/jimd.12091
Abstract: The translocon‐associated protein (TRAP) complex facilitates the translocation of proteins across the endoplasmic reticulum membrane and associates with the oligosaccharyl transferase (OST) complex to maintain proper glycosylation of nascent polypeptides. Pathogenic variants in either complex… read more here.
Keywords: associated protein; ssr3 cause; cause; glycosylation ... See more keywords