Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.C465R
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EIF2B4

NM_001034116.2:p.C465R

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

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.

Horzinski L et al.

Plos One, 2009

The ovarioleukodystrophy.

Mathis S et al.

Clinical Neurology and Neurosurgery, 2008

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

The large spectrum of eIF2B-related diseases.

Fogli A et al.

Biochemical Society Transactions, 2006

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure.

Fogli A et al.

Bmc Women's Health, 2004

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A et al.

Neurology, 2004

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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."