Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R716Q
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RAG1

NM_000448.3:p.R716Q

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

A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.

Zhang X et al.

Bmc Pediatrics, 2023

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B et al.

Scandinavian Journal of Immunology, 2017

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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."