Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.A391D
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EIF2B4

NM_001034116.2:p.A391D

Associated Papers

Unfolded protein response in myelin disorders.

Lin W et al.

Neural Regeneration Research, 2020

Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells.

Sekine Y et al.

Plos One, 2016

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

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

eIF2B-related disorders: antenatal onset and involvement of multiple organs.

van der Knaap MS et al.

American Journal of Human Genetics, 2003

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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."