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Article

Cohort-driven variant burden analysis and pathogenicity identification in monogenic autoinflammatory disorders.

The Journal of allergy and clinical immunology - 1 Aug 2023

Chen Xiang, Yu Xiaomin

Abstract excerpt

BACKGROUND: Nearly 50 pathogenic genes and hundreds of pathogenic variants have been identified in monogenic autoinflammatory diseases (AIDs). Nonetheless, there are still many genes for which the pathogenic mechanisms are poorly understood, and the pathogenicity of many candidate variants needs to be determined. OBJECTIVE: Monogenic AIDs are a group of rare genetic diseases characterized by inflammation as the...

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PMID: 37030591
DOI: 10.1016/j.jaci.2023.03.028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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