Varaico: Literature-Extracted Genetic Variants

Gene:IRF4
Variant:p.R98W
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IRF4

NM_002460.4:p.R98W

Associated Papers

Monogenic disorders of the IRF transcription factors.

Stojcic MP et al.

The Journal of Experimental Medicine, 2026

IRF4 haploinsufficiency in a multiplex family with Whipple's disease.

Ünal S et al.

Journal of Human Immunity, 2026

Human genetics of Whipple's disease.

Rosain J et al.

Current Opinion in Rheumatology, 2025

Molecular basis for the functional roles of the multimorphic T95R mutation of IRF4 causing human autosomal dominant combined immunodeficiency.

Wang G et al.

Structure (london, England : 1993), 2023

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.

Thouenon R et al.

The Journal of Experimental Medicine, 2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.

Fornes O et al.

Science Immunology, 2023

Human inborn errors of immunity associated with IRF4.

Thouenon R et al.

Frontiers in Immunology, 2023

IRF4 haploinsufficiency in a family with Whipple's disease.

Guérin A et al.

Elife, 2018

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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."