Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.R170C
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ZAP70

NM_001079.4:p.R170C

Associated Papers

Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.

Mongellaz C et al.

Frontiers in Immunology, 2023

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review.

Sharifinejad N et al.

Frontiers in Immunology, 2020

Severe axillary lymphadenitis after BCG vaccination: alert for primary immunodeficiencies.

Santos A et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2010

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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."