Varaico: Literature-Extracted Genetic Variants

Gene:ZAP70
Variant:p.R514C
Back to variants list

ZAP70

NM_001079.4:p.R514C

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 Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.

Shirkani A et al.

Immunological Investigations, 2017

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Karaca E et al.

Gene, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."