Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.Y126*
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EIF2B2

NM_014239.4:p.Y126*

Associated Papers

Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.

Sun Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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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."