Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.Q389*
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RELA

NM_021975.4:p.Q389*

Associated Papers

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Karaçayır N et al.

Journal of Clinical Immunology, 2026

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

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

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.

Sasahara Y et al.

Frontiers in Immunology, 2021

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Uchida T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

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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."