Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.G132A
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EIF2B5

NM_003907.3:p.G132A

Associated Papers

Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.

Albacete MAP et al.

Neuroradiology, 2024

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

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

[Left hemiparesis as a sign of onset of vanishing white matter disease. Identification of a new mutation].

Alías Hernández I et al.

Anales De Pediatria (barcelona, Spain : 2003), 2013

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

Koga S et al.

Rinsho Shinkeigaku = Clinical Neurology, 2012

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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."