Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.A454V
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PNPT1

NM_033109.5:p.A454V

Associated Papers

A novel polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review.

Li YY et al.

Translational Pediatrics, 2025

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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."