Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R316Q
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EIF2B5

NM_003907.3:p.R316Q

Associated Papers

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

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.

Deng J et al.

Frontiers in Genetics, 2021

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

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H et al.

Plos One, 2015

A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.

de Almeida RA et al.

Plos One, 2013

[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].

Wu Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007

[Clinical observation and long-term follow-up of benign infantile epilepsy].

Liu XY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."