Variant: rs113994022

present in Gene: EIF2B3 present in Chromosome: 1 Position on Chromosome: 44978349 Alleles of this Variant: G/A

rs113994022 in EIF2B3 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 25079571 2014 Vanishing white matter disease in French-Canadian patients from Quebec.