Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B2
Variant:p.S31T
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EIF2B2

NM_014239.4:p.S31T

Associated Papers

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Scali O et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006

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

Leegwater PA et al.

Journal of Child Neurology, 2003

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA et al.

Nature Genetics, 2001

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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."