Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.L666R
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STAT3

NM_139276.3:p.L666R

Associated Papers

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome.

Sun L et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations.

Sun L et al.

Biorxiv : the Preprint Server for Biology, 2024

In Silico Analyses of All STAT3 Missense Variants Leading to Explore Divergent AD-HIES Clinical Phenotypes.

Mansouri M et al.

Evolutionary Bioinformatics Online, 2023

Malignancy in STAT3 Deficient Hyper IgE Syndrome.

Urban A et al.

Journal of Clinical Immunology, 2022

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