Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.R159C
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RAG2

NM_000536.4:p.R159C

Associated Papers

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

Mutational landscape of severe combined immunodeficiency patients from Turkey.

Firtina S et al.

International Journal of Immunogenetics, 2020

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Sharapova SO et al.

Frontiers in Immunology, 2020

32655540 (PubMed )
Supplement: Table_3.xlsx › RAG2

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

Wu Z et al.

Microorganisms, 2019

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