Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.W240R
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IL2RG

NM_000206.3:p.W240R

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

The First Reported Case of Infant Soft Tissues Infection Caused by Legionella Maceachernii: A Case Report and Literature Review.

Zhang W et al.

Infection and Drug Resistance, 2025

A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).

Tan W et al.

Immunogenetics, 2015

Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).

Yao CM et al.

Journal of Clinical Immunology, 2013

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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."