Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.C291Y
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IL12RB1

NM_005535.3:p.C291Y

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

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

IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease.

Khoshnevisan R et al.

Journal of Clinical Tuberculosis and Other Mycobacterial Diseases, 2019

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

Rosain J et al.

Journal of Clinical Immunology, 2018

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

Arias AA et al.

Journal of Clinical Immunology, 2017

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2014

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E et al.

Human Mutation, 2013

Genetic association between a chemokine gene CXCL-10 (IP-10, interferon gamma inducible protein 10) and susceptibility to tuberculosis.

Tang NL et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009

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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."