Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.R45*
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TNFAIP3

NM_001270508.2:p.R45*

Associated Papers

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution.

He T et al.

The Journal of Allergy and Clinical Immunology, 2026

Clinical features and genetic analysis of A20 haploinsufficiency.

Xue F et al.

Orphanet Journal of Rare Diseases, 2025

LASSO-derived nomogram for early identification of pediatric monogenic lupus.

Zhang TY et al.

World Journal of Pediatrics : Wjp, 2024

Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization.

Tian Y et al.

Frontiers in Immunology, 2022

Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report.

Yan M et al.

Medicine, 2021

Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment.

Yu MP et al.

World Journal of Pediatrics : Wjp, 2020

[Infantile onset inflammatory bowel disease in a child caused by heterozygous mutation of TNFAIP3].

Liu P et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020

A20 at the Crossroads of Cell Death, Inflammation, and Autoimmunity.

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20.

Chen Y et al.

Frontiers in Immunology, 2020

33101300 (PubMed )
Supplement: Data_Sheet_3.PDF

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_Sup_Tab.xlsx › Supplementary_Table_6

Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia.

Dong X et al.

Journal of Clinical Immunology, 2019

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature.

Berteau F et al.

Autoimmunity Reviews, 2018

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Franco-Jarava C et al.

Clinical Immunology (orlando, Fla.), 2018

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

Kadowaki T et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."