Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.N315_V316insA
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IL12RB1

NM_005535.3:p.N315_V316insA

Associated Papers

Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency.

Alaki EM et al.

The Pediatric Infectious Disease Journal, 2018

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.

Ramirez-Alejo N et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Picard C et al.

American Journal of Human Genetics, 2002

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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."