Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.S485F
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IFNGR1

NM_000416.3:p.S485F

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

Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions.

Bińczak-Kuleta A et al.

Bosnian Journal of Basic Medical Sciences, 2016

Mendelian susceptibility to mycobacterial disease in egyptian children.

Galal N et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2012

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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."