Varaico: Literature-Extracted Genetic Variants

Gene:EPRS1
Variant:p.P14R
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EPRS1

NM_004446.3:p.P14R

Associated Papers

Aminoacyl-tRNA synthetase defects in neurological diseases.

Zhang H et al.

Iubmb Life, 2025

Cardiomyocyte-Specific Loss of Glutamyl-prolyl-tRNA Synthetase Leads to Disturbed Protein Homeostasis and Dilated Cardiomyopathy.

Wu J et al.

Cells, 2023

Cardiomyocyte-specific Loss of Glutamyl-prolyl-tRNA Synthetase Leads to Disturbed Protein Homeostasis and Dilated Cardiomyopathy.

Wu J et al.

Biorxiv : the Preprint Server for Biology, 2023

Decoding the impact of disease-causing mutations in an essential aminoacyl-tRNA synthetase.

Sissler M

The Journal of Biological Chemistry, 2021

Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.

Jin D et al.

The Journal of Biological Chemistry, 2021

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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."