Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.P467H
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PNPT1

NM_033109.5:p.P467H

Associated Papers

Structural insights into human PNPase in health and disease.

Li YC et al.

Nucleic Acids Research, 2025

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Pennisi A et al.

Journal of Medical Genetics, 2022

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R et al.

Journal of Clinical Medicine, 2019

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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."