Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.S116*
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IFNGR1

NM_000416.3:p.S116*

Associated Papers

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

Qu HQ et al.

International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2011

Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.

Guide SV et al.

Infectious Disease Clinics of North America, 2002

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

Jouanguy E et al.

The Journal of Clinical Investigation, 2000

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.

Jouanguy E et al.

Nature Genetics, 1999

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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."