Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.Y78S
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EIF2B5

NM_003907.3:p.Y78S

Associated Papers

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

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

Trimouille A et al.

Acta Neuropathologica Communications, 2020

Identification of residues that underpin interactions within the eukaryotic initiation factor (eIF2) 2B complex.

Wang X et al.

The Journal of Biological Chemistry, 2012

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

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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."