Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.T79I
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EIF2B5

NM_003907.3:p.T79I

Associated Papers

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

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Slynko I et al.

Molecular Genetics & Genomic Medicine, 2021

33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.

Deng J et al.

Frontiers in Genetics, 2021

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

Liu R et al.

Human Mutation, 2011

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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."