Varaico: Literature-Extracted Genetic Variants

Gene:FARS2
Variant:p.A12T
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FARS2

NM_006567.5:p.A12T

Associated Papers

Mitochondrial diseases: from molecular mechanisms to therapeutic advances.

Wen H et al.

Signal Transduction and Targeted Therapy, 2025

Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease.

Peretz M et al.

The Febs Journal, 2020

Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

Ling J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

Effect of nucleotide replacements in tRNAPhe on positioning of the acceptor end in the complex with phenylalanyl-tRNA synthetase.

Vasil'eva IA et al.

Biochemistry. Biokhimiia, 2004

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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."