Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.G95V
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RAG2

NM_000536.4:p.G95V

Associated Papers

Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.

Iancu O et al.

Molecular Therapy. Nucleic Acids, 2023

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."