Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.P619L
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RAG1

NM_000448.3:p.P619L

Associated Papers

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

Haque N et al.

Iscience, 2023

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

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

Rahmani F et al.

Immunological Investigations, 2021

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.

Chitty-Lopez M et al.

Frontiers in Immunology, 2020

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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."