Varaico: Literature-Extracted Genetic Variants

Gene:EIF2S3
Variant:p.T46I
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EIF2S3

NM_001415.4:p.T46I

Associated Papers

MEHMO syndrome: Review and proposed classification as an eIF2-related neuroendocrinopathy.

Dang Do AN et al.

Molecular Genetics and Metabolism, 2025

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Rittiner JE et al.

Neuron, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."