Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.L212R
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PNP

NM_000270.4:p.L212R

Associated Papers

Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).

Habib Dzulkarnain SM et al.

Journal of Clinical Immunology, 2023

Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.

NaserEddin A et al.

Journal of Clinical Immunology, 2021

The Broad Clinical Spectrum and Transplant Results of PNP Deficiency.

Schejter YD et al.

Journal of Clinical Immunology, 2020

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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."