Varaico: Literature-Extracted Genetic Variants

Gene:TYK2
Variant:p.S768_E771del0
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TYK2

NM_003331.5:p.S768_E771del0

Associated Papers

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.

Ogishi M et al.

The Journal of Experimental Medicine, 2022

Novel mutations of TYK2 leading to divergent clinical phenotypes.

Lv G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review.

Wu P et al.

Frontiers in Pediatrics, 2020

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY et al.

The Journal of Experimental Medicine, 2015

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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."