Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.Q187*
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TNFAIP3

NM_001270508.2:p.Q187*

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

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.

Zhang C et al.

Clinical Kidney Journal, 2022

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

Tian Y et al.

Frontiers in Immunology, 2022

Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature.

Liu J et al.

Frontiers in Pediatrics, 2022

Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation.

Li G et al.

Medicine, 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

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

Li GM et al.

Bmc Medical Genetics, 2019

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .
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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."