Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.G569D
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IL12RB1

NM_005535.3:p.G569D

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

Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.

Liu M et al.

Journal of Clinical Immunology, 2020

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

Rosain J et al.

Journal of Clinical Immunology, 2018

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

van de Vosse E et al.

Human Mutation, 2013

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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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."