Associated Papers
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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
Wortham NC et al.
Bmc Medical Genetics, 2015
Genetic and clinical heterogeneity in eIF2B-related disorder.
Maletkovic J et al.
Journal of Child Neurology, 2008
Vanishing white matter disease: a review with focus on its genetics.
Pronk JC et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
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