Varaico: Literature-Extracted Genetic Variants

Gene:E4F1
Variant:p.K144Q
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E4F1

NM_004424.5:p.K144Q

Associated Papers

E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.

Di Michele M et al.

Nature Communications, 2025

The p53 Pathway and Metabolism: The Tree That Hides the Forest.

Lahalle A et al.

Cancers, 2021

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A et al.

Biochimica Et Biophysica Acta, 2016

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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."