Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.E397_V398Splc
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EIF2B4

NM_001034116.2:p.E397_V398Splc

Associated Papers

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

Leegwater PA et al.

Journal of Child Neurology, 2003

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."