Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.R105_V106insFs
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IFNGR1

NM_000416.3:p.R105_V106insFs

Associated Papers

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

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 IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Prando C et al.

Medicine, 2013

Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.

Döffinger R et al.

Molecular Immunology, 2002

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."