Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.C196Y
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IL12RB1

NM_005535.3:p.C196Y

Associated Papers

Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.

Huang J et al.

Frontiers in Public Health, 2024

38317798 (PubMed )
Supplement: Data_Sheet_1.XLSX › Sheet1

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

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain J et al.

Journal of Clinical Immunology, 2018

Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.

Kolev M et al.

Immunity, 2015

26084023 (PubMed )
Supplement: mmc2.xlsx › 141119_pid_genes_6069_nonsyn_or

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.

Boisson-Dupuis S et al.

Plos One, 2011

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

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