Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.Y219N
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IL2RG

NM_000206.3:p.Y219N

Associated Papers

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.

Wiekmeijer AS et al.

The Journal of Allergy and Clinical Immunology, 2016

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

Okuno Y et al.

Journal of Clinical Immunology, 2015

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.

Kuijpers TW et al.

Haematologica, 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."