Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.L526R
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RAG1

NM_000448.3:p.L526R

Associated Papers

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.

Thouvenel CD et al.

Journal of Clinical Immunology, 2025

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

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

Cifaldi C et al.

Journal of Clinical Immunology, 2022

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

Matangkasombut P et al.

Blood, 2008

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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."