Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R222W
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EIF2B5

NM_003907.3:p.R222W

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

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Benzoni C et al.

Journal of Neurology, 2023

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

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

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Carra-Dalliere C et al.

Revue Neurologique, 2011

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.

Horzinski L et al.

Plos One, 2009

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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."