Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.G232E
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IL2RG

NM_000206.3:p.G232E

Associated Papers

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Marakhonov A et al.

Frontiers in Immunology, 2026

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S1

Bending of DNA duplexes with mutation motifs.

Růžička M et al.

Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L et al.

Clinical Immunology (orlando, Fla.), 2017

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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."