Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.E170G
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RAG2

NM_000536.4:p.E170G

Associated Papers

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

Min Q et al.

Frontiers in Immunology, 2023

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.

Csomos K et al.

Nature Immunology, 2022

35902638 (PubMed )
Supplement: 41590_2022_1271_MOESM1_ESM.xlsx › Table_2

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.

Dorna MB et al.

Frontiers in Pediatrics, 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."