Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.S191N
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EIF2B5

NM_003907.3:p.S191N

Associated Papers

Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter.

Triñanes-Ramos J et al.

Brain : a Journal of Neurology, 2025

Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells.

Smit WL et al.

Stem Cell Research, 2021

Astrocytes are central in the pathomechanisms of vanishing white matter.

Dooves S et al.

The Journal of Clinical Investigation, 2016

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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."