Varaico: Literature-Extracted Genetic Variants

Gene:IL2RA
Variant:p.M1I
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IL2RA

NM_000417.3:p.M1I

Associated Papers

IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.

Arango-Franco CA et al.

The Journal of Clinical Investigation, 2024

39352394 (PubMed )
Supplement: jci-134-180251-s157.pdf

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Passerini L et al.

European Journal of Immunology, 2011

Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

Usui T et al.

Hormone Research, 2004

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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."