Varaico: Literature-Extracted Genetic Variants

Gene:TRMT5
Variant:p.E294A
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TRMT5

NM_020810.3:p.E294A

Associated Papers

Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.

Wu S et al.

Bmc Pediatrics, 2022

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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."