Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.Q82*
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PNP

NM_000270.4:p.Q82*

Associated Papers

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.

Herrmann US et al.

Blood, 2026

Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.

Karaaslan BG et al.

Journal of Clinical Immunology, 2023

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

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM7_ESM.xlsx › Supplementary_Table_S6

The Broad Clinical Spectrum and Transplant Results of PNP Deficiency.

Schejter YD et al.

Journal of Clinical Immunology, 2020

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

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

Fekrvand S et al.

Immunological Investigations, 2019

Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India.

Gupta K et al.

Journal of Clinical Pathology, 2018

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation.

Somech R et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."