Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.T182M
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EIF2B5

NM_003907.3:p.T182M

Associated Papers

Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.

Thuppanattumadam Ananthasubramanian S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature.

Kong F et al.

Frontiers in Neurology, 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

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.

Wei C et al.

Bmc Neurology, 2019

[Case of adult onset vanishing white matter disease developed after minor head trauma].

Koga S et al.

Rinsho Shinkeigaku = Clinical Neurology, 2012

Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations.

Lee HN et al.

European Journal of Neurology, 2009

Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.

Matsui M et al.

European Neurology, 2007

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.

Ohtake H et al.

Neurology, 2004

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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."