Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.E480*
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RAG2

NM_000536.4:p.E480*

Associated Papers

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.

Taghizadeh Mortezaei N et al.

Bmc Pediatrics, 2024

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients.

Manor U et al.

Immunologic Research, 2019

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K et al.

Frontiers in Immunology, 2017

The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients.

Lev A et al.

Plos One, 2012

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

Lev A et al.

Clinical & Developmental Immunology, 2012

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Dalal I et al.

Clinical Immunology (orlando, Fla.), 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."