Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.N376D
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EIF2B5

NM_003907.3:p.N376D

Associated Papers

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

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Takano K et al.

Brain & Development, 2015

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

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.

Leng X et al.

Journal of Human Genetics, 2011

[Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter].

Leng XR et al.

Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

Wu Y et al.

Journal of Human Genetics, 2009

[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."