Varaico: Literature-Extracted Genetic Variants

Gene:PNPO
Variant:p.G7D
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PNPO

NM_018129.4:p.G7D

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMC5.xlsx › Missense_ISAs

Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.

Bariş S et al.

Revista Da Associacao Medica Brasileira (1992), 2023

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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."