Article

Expanding EMC Foldopathies: Topogenesis Deficits Alter the Neural Crest

2022-05-16

Abstract excerpt

The endoplasmic reticulum membrane protein complex (EMC) is essential for the insertion of a wide variety of transmembrane proteins into the plasma membrane across cell types. Each EMC is composed of Emc1-7, Emc10, and either Emc8 or Emc9. Recent human genetics studies have implicated variants in EMC genes as the basis for a group of human congenital diseases. The patient phenotypes are varied but appear to affect...

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Literature Corpus work: 23af1ae7-5219-5368-87ba-44e8f2b76c76
DOI: 10.1101/2022.05.16.492013

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