Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.L696_R697Splc
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TNFAIP3

NM_001270508.2:p.L696_R697Splc

Associated Papers

Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey.

Shiraki M et al.

Frontiers in Immunology, 2025

Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.

Shimizu M et al.

Modern Rheumatology, 2021

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."