Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.N173delFs
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RAG2

NM_000536.4:p.N173delFs

Associated Papers

Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.

Hasan FM et al.

Journal of Medical Case Reports, 2025

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Cifaldi C et al.

Journal of Clinical Immunology, 2022

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