Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.S308_A309Splc
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IL2RG

NM_000206.3:p.S308_A309Splc

Associated Papers

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency.

Ding F et al.

Genes & Diseases, 2025

Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease.

Qian W et al.

Case Reports in Medicine, 2024

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.

Vignesh P et al.

Frontiers in Immunology, 2022

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.

Yamashita M et al.

International Journal of Hematology, 2019

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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."