Variant: rs113994048 

    present in Gene: LOC105374249;EIF2B5
    present in Chromosome: 3
    Position on Chromosome: 184136734
    Alleles of this Variant: A/T

rs113994048 in LOC105374249;EIF2B5 gene and Movement Disorders PMID 16807905 2006 Vanishing white matter disease: a review with focus on its genetics.

PMID 20838246 2010 Leukoencephalopathy with vanishing white matter: a review.

PMID 9710032 1998 Phenotypic variation in leukoencephalopathy with vanishing white matter.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 25089094 2014 Vanishing white matter disease in a spanish population.