Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.G369V
Back to variants list

EIF2B5

NM_003907.3:p.G369V

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

Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.

Richardson JP et al.

Molecular and Cellular Biology, 2004

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."