Varaico: Literature-Extracted Genetic Variants

Gene:IL23R
Variant:p.Y123Splc
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IL23R

NM_144701.3:p.Y123Splc

Associated Papers

Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.

Gerbaux M et al.

European Journal of Immunology, 2025

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.

Philippot Q et al.

Science Immunology, 2023

A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease.

Staels F et al.

Journal of Clinical Immunology, 2022

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

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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."