Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.P268fs
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TNFAIP3

NM_001270508.2:p.P268fs

Associated Papers

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

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

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

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

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

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

Zheng C et al.

Inflammatory Bowel Diseases, 2018

An Update on Autoinflammatory Diseases: Relopathies.

Steiner A et al.

Current Rheumatology Reports, 2018

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

Zhou Q et al.

Nature Genetics, 2016

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.

Horita N et al.

Clinical and Experimental Rheumatology, 0

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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."