Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C730Y
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RAG1

NM_000448.3:p.C730Y

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

Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.

Bai X et al.

Immunologic Research, 2016

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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."