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ArticleHGG advances2026

A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation.

Bobby G Ng et al.PubMed ↗Full text ↗Publisher ↗

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1 paper cites it

2026
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Full record →Abstract, authors, funding and every citing paper · PMID 41935956