Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.A79V
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EIF2B1

NM_001414.4:p.A79V

Associated Papers

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

English AM et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Slynko I et al.

Molecular Genetics & Genomic Medicine, 2021

33432707 (PubMed )
Supplement: MGG3-9-e1593-s001.pdf

Genetic and clinical heterogeneity in eIF2B-related disorder.

Maletkovic J et al.

Journal of Child Neurology, 2008

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