Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.T208S
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EIF2B5

NM_003907.3:p.T208S

Associated Papers

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Slynko I et al.

Molecular Genetics & Genomic Medicine, 2021

33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS et al.

Annals of Neurology, 2002

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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."