Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.M572L
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ZAP70

NM_001079.4:p.M572L

Associated Papers

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

Sharifinejad N et al.

Frontiers in Immunology, 2020

Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency.

Gavino C et al.

The Journal of Allergy and Clinical Immunology, 2017

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

Liu Q et al.

Immunogenetics, 2017

Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

Elder ME et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. Restoration of a kinase domain mutant by Cdc37.

Matsuda S et al.

The Journal of Biological Chemistry, 1999

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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."