Varaico: Literature-Extracted Genetic Variants

Gene:IRF4
Variant:p.E45*
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IRF4

NM_002460.4:p.E45*

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

38363452 (PubMed )
Supplement: 10875_2024_1664_MOESM1_ESM.docx

A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase.

Mehine M et al.

Oncogenesis, 2022

36068196 (PubMed )
Supplement: 41389_2022_425_MOESM2_ESM.xlsx › Supplementary_Table_3

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

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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."