Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.G125Splc
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IFNGR1

NM_000416.3:p.G125Splc

Associated Papers

Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses.

Kratzer B et al.

International Archives of Allergy and Immunology, 2023

Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.

Heinz JL et al.

Frontiers in Molecular Neuroscience, 2023

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.

Zhou Z et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation.

Michniacki TF et al.

Journal of Clinical Immunology, 2019

Impaired IFNγ-Signaling and Mycobacterial Clearance in IFNγR1-Deficient Human iPSC-Derived Macrophages.

Neehus AL et al.

Stem Cell Reports, 2018

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

van de Vosse E et al.

Human Mutation, 2017

Two patients with complete defects in interferon gamma receptor-dependent signaling.

Noordzij JG et al.

Journal of Clinical Immunology, 2007

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

Guide SV et al.

Infectious Disease Clinics of North America, 2002

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

Dorman SE et al.

Lancet (london, England), 0

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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."