Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
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Bilches Medinas D, et al. Among authors: contreras d.
EMBO J. 2022 Dec 17;41(2):e105531. doi: 10.15252/embj.2020105531. Epub 2021 Dec 14.
EMBO J. 2022.
PMID: 34904718
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