Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.C77F
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IFNGR1

NM_000416.3:p.C77F

Associated Papers

IFNGR1, IRF8 genetic polymorphisms modulate the susceptibility of non-tuberculous mycobacteria pulmonary disease and influence the patients' treatment outcomes and immune status.

Cheng LP et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2025

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

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Sologuren I et al.

Human Molecular Genetics, 2011

Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-γ response.

Leung DY et al.

The Journal of Allergy and Clinical Immunology, 2011

Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.

van de Wetering D et al.

Molecular Immunology, 2010

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.

Chantrain CF et al.

Bone Marrow Transplantation, 2006

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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."