Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.Q285*
Back to variants list

IL12RB1

NM_005535.3:p.Q285*

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

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

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

van de Vosse E et al.

Human Mutation, 2013

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

de Beaucoudrey L et al.

Medicine, 2010

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pedraza S et al.

Pediatrics, 2010

Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency.

Lee PP et al.

European Journal of Pediatrics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."