Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.L27Q
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EIF2B3

NM_020365.5:p.L27Q

Associated Papers

Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.

Thuppanattumadam Ananthasubramanian S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

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

Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.

Lee YR et al.

Human Molecular Genetics, 2021

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

Wei C et al.

Bmc Neurology, 2019

eIF2B promotes eIF5 dissociation from eIF2*GDP to facilitate guanine nucleotide exchange for translation initiation.

Jennings MD et al.

Genes & Development, 2013

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

La Piana R et al.

Archives of Neurology, 2012

[Case of adult onset vanishing white matter disease developed after minor head trauma].

Koga S et al.

Rinsho Shinkeigaku = Clinical Neurology, 2012

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

Matsukawa T et al.

Neurogenetics, 2011

Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.

Gowda VK et al.

Journal of Pediatric Neurosciences, 0

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