Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB2
Variant:p.Q138*
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IL12RB2

NM_001374259.2:p.Q138*

Associated Papers

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

36763636 (PubMed )
Supplement: NIHMS1878751-supplement-Supplementary_Materials_and_Methods.pdf

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

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R et al.

Science Immunology, 2018

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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."