Varaico: Literature-Extracted Genetic Variants

Gene:IRF9
Variant:p.V193Splc
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IRF9

NM_006084.5:p.V193Splc

Associated Papers

Monogenic disorders of the IRF transcription factors.

Stojcic MP et al.

The Journal of Experimental Medicine, 2026

Infectious and inflammatory events in 2 siblings with IRF9 deficiency under immunoglobulin replacement therapy.

Del Rosal T et al.

The Journal of Allergy and Clinical Immunology, 2025

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.

Miguel Berenguel L et al.

Frontiers in Immunology, 2024

Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.

Skouboe MK et al.

Pathogens (basel, Switzerland), 2023

Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity.

Duncan CJA et al.

Trends in Genetics : Tig, 2021

The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Elhabyan A et al.

Virus Research, 2020

Host Single Nucleotide Polymorphisms Modulating Influenza A Virus Disease in Humans.

Nogales A et al.

Pathogens (basel, Switzerland), 2019

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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."