Publications:

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Nature Communications

Linders, Peter T A PTA; Gerretsen, Eveline C F ECF; Ashikov, Angel A; Vals, Mari-Anne MA; de Boer, Rinse R; Revelo, Natalia H NH; Arts, Richard R; Baerenfaenger, Melissa M; Zijlstra, Fokje F; Huijben, Karin K; Raymond, Kimiyo K; Muru, Kai K; Fjodorova, Olga O; Pajusalu, Sander S; Õunap, Katrin K; Ter Beest, Martin M; Lefeber, Dirk D; van den Bogaart, Geert G

Publication Date: 2021-10-28

Variant appearance in text: MED23: G254C

PubMed Link: 34711829

Variant Present in the following documents:

• 41467_2021_26534_MOESM4_ESM.xlsx, sheet 1

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