Article

Identification of an A20 critical region harboring missense variations that lead to autoinflammation

2022-07-30

Abstract excerpt

<h4>ABSTRACT</h4> A20 haploinsufficiency (HA20) is an autoinflammatory disease caused by heterozygous loss-of-function variations in TNFAIP3, the gene encoding the A20 protein. Diagnosis of HA20 is challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. While the pathogenic effect of TNFAIP3 truncating variations is clearly established, that of missense variations is d...

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Literature Corpus work: 4e5124c7-c056-5ff5-9701-97073dccf22f
DOI: 10.1101/2022.07.29.502017

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