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Article

Decoding variants of uncertain significance in systemic autoinflammatory diseases.

Nature reviews. Rheumatology - 1 Jul 2026

Boursier Guilaine, Carbone Alessandra, Savic Sinisa, Henry Thomas

Abstract excerpt

The development and implementation of genetic testing has revolutionized the diagnostic landscape of autoinflammatory diseases, leading to an exponential increase in the identification of disease-associated genetic variants. Yet a substantial proportion of these are considered variants of uncertain significance (VUS), complicating both diagnosis and therapeutic decision-making. This challenge is relevant not only...

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Source

Identifiers

PMID: 42191839
DOI: 10.1038/s41584-026-01380-8

Genes

ADA2
MEFV
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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