Article

<i>De novo EIF2AK1</i> and <i>EIF2AK2</i> variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

2019-09-16

Abstract excerpt

<h4>ABSTRACT</h4> EIF2AK1 and EIF2AK2 encode members of the Eukaryotic Translation Initiation Factor 2 Alpha Kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with del...

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Literature Corpus work: e5ec1808-61ab-5454-924e-a7e72cb053cb
DOI: 10.1101/757039

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