Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.L73P
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PNP

NM_000270.4:p.L73P

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

Mutations That Confer Drug-Resistance, Oncogenicity and Intrinsic Activity on the ERK MAP Kinases-Current State of the Art.

Smorodinsky-Atias K et al.

Cells, 2020

The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.

Fekrvand S et al.

Immunological Investigations, 2019

Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

Baguette C et al.

Journal of Pediatric Hematology/oncology, 2002

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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."