Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.S14F
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EIF2B3

NM_020365.5:p.S14F

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

[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].

Carra-Dalliere C et al.

Revue Neurologique, 2011

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

Horzinski L et al.

Plos One, 2009

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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."