TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Dosyalar

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.pdf (1.12 MB)

Tarih

Yazarlar

Almousa, Hashem

Bakhtiari, Somayeh

Nordlie, Sandra Hinz

Efthymiou, Stephanie

Heim, Jennifer A.

Cornejo, Patricia

DOI No

10.1093/brain/awad301

Diğer Tanımlayıcı No

WOS:001133529100001

Yayınevi

OXFORD UNIV PRESS

Anahtar kelimeler

TRAPPC6B, NEDMEBA, TRAPPopathy, TRAPP\\-II complex, ER\\-golgi trafficking, Trs33

URI

https://openaccess.acibadem.edu.tr/handle/11443/6031

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