Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A2
Variant:p.A125E
Back to variants list

EEF1A2

NM_001958.5:p.A125E

Associated Papers

Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.

Minoia M et al.

Nature Communications, 2024

On the Need to Tell Apart Fraternal Twins eEF1A1 and eEF1A2, and Their Respective Outfits.

Mills A et al.

International Journal of Molecular Sciences, 2021

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Carvill GL et al.

Human Mutation, 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."