Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders

Bryen, SJ; Zhang, K; Dziaduch, G; Bommireddipalli, S; Naseri, T; Reupena, MS; Viali, S; Minster, RL; Waddell, LB; Charlton, A; O'Grady, GL; Evesson, FJ; Cooper, ST

Cooper, ST (通讯作者)，Univ Sydney, Locked Bag 4001, Westmead, NSW 4001, Australia.

CLINICAL GENETICS, 2023; 103 (5): 553

Abstract

EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein......

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