Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.H341Q
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EIF2B3

NM_020365.5:p.H341Q

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

eIF2B promotes eIF5 dissociation from eIF2*GDP to facilitate guanine nucleotide exchange for translation initiation.

Jennings MD et al.

Genes & Development, 2013

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

Horzinski L et al.

Plos One, 2009

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Fogli A et al.

European Journal of Human Genetics : Ejhg, 2004

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A et al.

Neurology, 2004

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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."