Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R829S
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RAG1

NM_000448.3:p.R829S

Associated Papers

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

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

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Sharapova SO et al.

Journal of Clinical Immunology, 2016

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

Meshaal S et al.

Clinical Immunology (orlando, Fla.), 2015

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Haq IJ et al.

Clinical Immunology (orlando, Fla.), 2007

RAG-dependent primary immunodeficiencies.

Sobacchi C et al.

Human Mutation, 2006

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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."