Associated Papers
Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
Khorrami M et al.
Journal of Molecular Neuroscience : Mn, 2021
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Lee YR et al.
Human Molecular Genetics, 2021
Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings.
Song H et al.
Journal of Child Neurology, 2017
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