Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.Y166C
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PNP

NM_000270.4:p.Y166C

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

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

Fekrvand S et al.

Immunological Investigations, 2019

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.

Tsuda M et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2002

[Purine nucleoside phosphorylase (PNP) deficiency].

Sakiyama T

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1996

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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."