Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.S248fs
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IL2RG

NM_000206.3:p.S248fs

Associated Papers

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Rispoli F et al.

Diagnostics (basel, Switzerland), 2021

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.

Cirillo E et al.

Frontiers in Immunology, 2019

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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."