Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B4
Variant:p.Y489H
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EIF2B4

NM_001034116.2:p.Y489H

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

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.

Wei C et al.

Bmc Neurology, 2019

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

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."