Varaico: Literature-Extracted Genetic Variants

Gene:TNFAIP3
Variant:p.G267delFs
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TNFAIP3

NM_001270508.2:p.G267delFs

Associated Papers

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

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."