Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.R394Q
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RAG1

NM_000448.3:p.R394Q

Associated Papers

Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.

Akarsu A et al.

Immunologic Research, 2025

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Karaatmaca B et al.

Clinical and Experimental 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: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.

Ulusoy E et al.

Journal of Clinical Medicine Research, 2016

A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency.

Dvorak CC et al.

Pediatric Transplantation, 2014

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Lee YN et al.

The Journal of Allergy and Clinical Immunology, 2014

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.

Kutukculer N et al.

Italian Journal of Pediatrics, 2012

Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.

Azarsiz E et al.

Journal of Clinical Immunology, 2011

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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."