Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.G47E
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EIF2B3

NM_020365.5:p.G47E

Associated Papers

Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.

Lee YR et al.

Human Molecular Genetics, 2021

Modeling vanishing white matter disease with patient-derived induced pluripotent stem cells reveals astrocytic dysfunction.

Zhou L et al.

Cns Neuroscience & Therapeutics, 2019

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

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

La Piana R et al.

Archives of Neurology, 2012

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."