Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.S194*
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RAG2

NM_000536.4:p.S194*

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

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

Karaatmaca B et al.

Clinical and Experimental Immunology, 2024

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.

Shahbazi Z et al.

Immunology Letters, 2019

NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.

Wu Z et al.

Microorganisms, 2019

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Haq IJ et al.

Clinical Immunology (orlando, Fla.), 2007

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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."