Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.M305I
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EIF2B5

NM_003907.3:p.M305I

Associated Papers

A (dis)integrated stress response: Genetic diseases of eIF2α regulators.

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Shimada S et al.

Brain & Development, 2015

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H et al.

Plos One, 2015

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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."