Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.Y89C
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IL2RG

NM_000206.3:p.Y89C

Associated Papers

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.

Walsh ZH et al.

Nature Biotechnology, 2025

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.

Soomann M et al.

Journal of Clinical Immunology, 2024

Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cells.

Walsh ZH et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Belaid B et al.

Frontiers in Immunology, 2021

Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.

Chi ZH et al.

Medicine, 2018

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S et al.

The New England Journal of Medicine, 2014

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.

Recher M et al.

Blood, 2011

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.

Lebet T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008

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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."