Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.I153N
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IL2RG

NM_000206.3:p.I153N

Associated Papers

Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency.

Hou Y et al.

Genes, 2021

Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.

Belaid B et al.

Frontiers in Immunology, 2021

Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.

Gilmour KC et al.

British Journal of Haematology, 2001

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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."