Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.R283*
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ZAP70

NM_001079.4:p.R283*

Associated Papers

Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype.

Luo X et al.

Bmc Pediatrics, 2023

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

Sharifinejad N et al.

Frontiers in Immunology, 2020

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J et al.

Frontiers in Immunology, 2019

Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder.

Liu Q et al.

Immunogenetics, 2017

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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."