Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.R95Splc
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EIF2B2

NM_014239.4:p.R95Splc

Associated Papers

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."