Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.A322G
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EIF2B3

NM_020365.5:p.A322G

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

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

Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.

Xu L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

Lee YR et al.

Human Molecular Genetics, 2021

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

[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."