Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.T477S
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RAG1

NM_000448.3:p.T477S

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

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Sharapova SO et al.

Frontiers in Immunology, 2020

32655540 (PubMed )
Supplement: Table_1.xlsx › RAG1

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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