Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.F224delFs
Back to variants list

TNFAIP3

NM_001270508.2:p.F224delFs

Associated Papers

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

Shirai H et al.

Frontiers in Immunology, 2024

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

Tian Y et al.

Frontiers in Immunology, 2022

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

Martens A et al.

Cold Spring Harbor Perspectives in Biology, 2020

Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20).

Zheng C et al.

Inflammatory Bowel Diseases, 2018

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

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q et al.

Nature Genetics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."