Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.V398fs
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EIF2B3

NM_020365.5:p.V398fs

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

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

Translation factors: in sickness and in health.

Abbott CM et al.

Trends in Biochemical Sciences, 2004

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

Leegwater PA et al.

Journal of Child Neurology, 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."