Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.Q236E
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EIF2B3

NM_020365.5:p.Q236E

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

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Park J et al.

Molecular Genetics & Genomic Medicine, 2019

Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report.

Hyun SE et al.

Annals of Rehabilitation Medicine, 2019

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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."