Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.L73R
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EIF2B1

NM_001414.4:p.L73R

Associated Papers

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Ren Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

A (dis)integrated stress response: Genetic diseases of eIF2α regulators.

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

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

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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."