Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.G636D
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PNPT1

NM_033109.5:p.G636D

Associated Papers

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Ghannoum M et al.

Clinical Toxicology (philadelphia, Pa.), 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."