Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.Y325*
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IL2RG

NM_000206.3:p.Y325*

Associated Papers

The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.

Arcas-García A et al.

Clinical and Experimental Immunology, 2020

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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."