Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.H487fs
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RELA

NM_021975.4:p.H487fs

Associated Papers

Case report and literature review: clinical manifestations and treatment of human RelA deficiency.

Wang C et al.

Frontiers in Immunology, 2025

40134438 (PubMed )
Supplement: Table1.docx

Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches.

Kozu KT et al.

Advances in Rheumatology (london, England), 2024

Genetic Alterations of NF-κB and Its Regulators: A Rich Platform to Advance Colorectal Cancer Diagnosis and Treatment.

Alipourgivi F et al.

International Journal of Molecular Sciences, 2023

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.

Moriya K et al.

The Journal of Experimental Medicine, 2023

Case report: Novel variants in RELA associated with familial Behcet's-like disease.

An JW et al.

Frontiers in Immunology, 2023

A Novel RELA Truncating Mutation in a Familial Behçet's Disease-like Mucocutaneous Ulcerative Condition.

Adeeb F et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

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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."