Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.I129insFs
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PNP

NM_000270.4:p.I129insFs

Associated Papers

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature.

Liu M et al.

Hematology (amsterdam, Netherlands), 2025

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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."