Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.H994R
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RAG1

NM_000448.3:p.H994R

Associated Papers

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.

Chen X et al.

Frontiers in Immunology, 2024

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

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc7.xlsx › S6B-RAG1_Predicted

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_1

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.

Geier CB et al.

Frontiers in Immunology, 2020

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 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."