Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.I273insFs
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IFNGR1

NM_000416.3:p.I273insFs

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

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

van de Vosse E et al.

Human Mutation, 2017

Nontuberculous mycobacterial infections in children with inborn errors of the immune system.

Haverkamp MH et al.

The Journal of Infection, 2014

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Okada S et al.

Journal of Medical Genetics, 2007

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Filipe-Santos O et al.

Seminars in Immunology, 2006

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

Guide SV et al.

Infectious Disease Clinics of North America, 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."