Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.Y349fs
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RELA

NM_021975.4:p.Y349fs

Associated Papers

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.

Tal N et al.

Inflammatory Bowel Diseases, 2025

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

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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."