De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Chung, HL; Rump, P; Lu, D; Glassford, MR; Mok, JW; Fatih, J; Basal, A; Marcogliese, PC; Kanca, O; Rapp, M; Fock, JM; Kamsteeg, EJ; Lupski, JR; Larson, A; Haninbal, MC; Bellen, H; Harel, T

Bellen, H (通讯作者)，Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.;Harel, T (通讯作者)，Hadassah Hebrew Univ, Dept Genet, Med Ctr, POB 12000, IL-9112001 Jerusalem, Israel.

HUMAN MOLECULAR GENETICS, 2022; 31 (19): 3231

Abstract

Background The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functio......

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