Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.S251fs
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PNP

NM_000270.4:p.S251fs

Associated Papers

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.

Bettiol A et al.

International Journal of Neonatal Screening, 2025

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