Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP3
Variant:p.Q43*
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GTPBP3

NM_032620.4:p.Q43*

Associated Papers

Assessment of the respiratory chain enzyme activity in peripheral blood monocytes for the noninvasive diagnostics of mitochondrial disease.

Liu JJ et al.

World Journal of Pediatrics : Wjp, 2025

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Xie Y et al.

Orphanet Journal of Rare Diseases, 2024

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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."