Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R507G
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RAG1

NM_000448.3:p.R507G

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: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

Westermann-Clark E et al.

Clinical Immunology (orlando, Fla.), 2018

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."