Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R972W
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RAG1

NM_000448.3:p.R972W

Associated Papers

Lymphopenia drives T cell exhaustion in immunodeficient STING gain-of-function mice.

Freytag D et al.

Embo Molecular Medicine, 2025

B cell abnormalities and autoantibody production in patients with partial RAG deficiency.

Min Q et al.

Frontiers in Immunology, 2023

RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.

Bosticardo M et al.

European Journal of Immunology, 2021

Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.

Villa A et al.

Frontiers in Immunology, 2020

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2019

RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Villa A et al.

Immunological Reviews, 2019

Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.

Ott de Bruin LM et al.

Blood, 2018

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2018

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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."