Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B3
Variant:p.M8L
Back to variants list

EIF2B3

NM_020365.5:p.M8L

Associated Papers

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants.

Gui M et al.

Bmc Neurology, 2024

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.

Xie JJ et al.

Cns Neuroscience & Therapeutics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."