Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.P467S
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PNPT1

NM_033109.5:p.P467S

Associated Papers

Structural insights into human PNPase in health and disease.

Li YC et al.

Nucleic Acids Research, 2025

The relationship between defects in DNA repair genes and autoinflammatory diseases.

Kivanc D et al.

Rheumatology International, 2022

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.

Bamborschke D et al.

Brain & Development, 2021

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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."