Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.P244L
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EIF2B4

NM_001034116.2:p.P244L

Associated Papers

In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.

Böck D et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

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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."