Varaico: Literature-Extracted Genetic Variants

Gene:IRF4
Variant:p.P88Q
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IRF4

NM_002460.4:p.P88Q

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin.

Hautala NM et al.

Bmj Open Ophthalmology, 2024

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

IRF4 haploinsufficiency in a family with Whipple's disease.

Guérin A et al.

Elife, 2018

29537367 (PubMed )
Supplement: elife-32340-fig2-data1.xlsx › Feuil1

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Casolari DA et al.

Scientific Reports, 2017

28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_
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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."