Varaico: Literature-Extracted Genetic Variants

Gene:STK4
Variant:p.Q274insFs
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STK4

NM_006282.5:p.Q274insFs

Associated Papers

Expanding the spectrum of epidermodysplasia verruciformis: mutations linked to primary immunodeficiency disorders.

Sharma A et al.

Clinical and Experimental Dermatology, 2025

Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.

Ying W et al.

Journal of Clinical Immunology, 2024

39110273 (PubMed )
Supplement: 10875_2024_1780_MOESM2_ESM.xlsx › S3_Immunophenotype_review

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A et al.

Journal of Clinical Immunology, 2021

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

Sharafian S et al.

Journal of Clinical Immunology, 2019

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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."