Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.V152A
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IL2RG

NM_000206.3:p.V152A

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

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

Cesana D et al.

Nature Communications, 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

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

Vignesh P et al.

Frontiers in Immunology, 2022

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

Hou Y et al.

Genes, 2021

Progressive B Cell Loss in Revertant X-SCID.

Lin CH et al.

Journal of Clinical Immunology, 2020

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).

Kumaki S et al.

Human Genetics, 2000

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.

Kato T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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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."