Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.S225R
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IL2RG

NM_000206.3:p.S225R

Associated Papers

Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCID.

Assing K et al.

Immunity, Inflammation and Disease, 2025

Germline Genetic Variant Classification Requires More Equitable Reference Database Representation.

Burstein S et al.

Pediatrics, 2025

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID.

Deal C et al.

Frontiers in Immunology, 2020

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.

Nourizadeh M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2015

Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.

Fazlollahi MR et al.

Journal of Investigational Allergology & Clinical Immunology, 0

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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."