Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.R234*
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PNP

NM_000270.4:p.R234*

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

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Kalina T et al.

Frontiers in Immunology, 2020

Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants.

Kütükçüler N et al.

Turk Pediatri Arsivi, 2020

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

Fekrvand S et al.

Immunological Investigations, 2019

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Akar HH et al.

Central-european Journal of Immunology, 2016

Purine nucleoside phosphorylase deficiency: a mutation update.

Walker PL et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.

Grunebaum E et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

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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."