Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.R87*
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TNFAIP3

NM_001270508.2:p.R87*

Associated Papers

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

Anselmi F et al.

Rmd Open, 2026

Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.

Shirai H et al.

Frontiers in Immunology, 2024

Molecular Characterization of Primary Mediastinal Large B-Cell Lymphomas.

Donzel M et al.

Cancers, 2023

37835560 (PubMed )
Supplement: cancers-15-04866-s001.zip › Suppl._Table._2.xlsx › Feuil1

Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.

Cakir M et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2023

Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.

Cao C et al.

Frontiers in Endocrinology, 2023

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

Aslani N et al.

Pediatric Rheumatology Online Journal, 2022

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

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

Tian Y et al.

Frontiers in Immunology, 2022

Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.

Deshayes S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

Targeted genotyping of circulating tumor DNA for classical Hodgkin lymphoma monitoring: a prospective study.

Camus V et al.

Haematologica, 2021

A20 Haploinsufficiency in East Asia.

Kadowaki T et al.

Frontiers in Immunology, 2021

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

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report.

Li GM et al.

Bmc Medical Genetics, 2019

The genetic landscape of dural marginal zone lymphomas.

Ganapathi KA et al.

Oncotarget, 2016

27248180 (PubMed )
Supplement: oncotarget-07-43052-s003.xlsx › Supp_Table_3
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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."