TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, Efthymiou S, Heim J, Cornejo P, Zaki M, Anwar N, Maqbool S, Rahman F, Neilson D, Vemuri A, Jin S, Yang X, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel A, Tomoum H, Shata M, Hashem M, Toosi M, Karimiani E, YeĹźil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent J, Innes A, Dursun A, Ă–zgĂĽl R, Akar H, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat L, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer M. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 2023, 147: 311-324. PMID: 37713627, PMCID: PMC10766242, DOI: 10.1093/brain/awad301.Peer-Reviewed Original Research
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