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Article

Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.

Immunological medicine - 1 Sept 2024

Kishida Dai, Yazaki Masahide, Nakamura Akinori, Tsuchiya-Suzuki Ayako, Ichikawa Takanori, Shimojima Yasuhiro, Sekijima Yoshiki

Abstract excerpt

The detection of variants of unknown significance (VUS) in familial Mediterranean fever (FMF) is common; however, their diagnostic value remains elusive, and the interpretation of multiple VUS remains difficult. Therefore, we examined FMF diagnosis-associated factors 1-year post-genetic testing in patients with only VUS and assessed the impact of multiple VUS on diagnosis and clinical features. A 1-year follow-up...

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Identifiers

PMID: 38780575
DOI: 10.1080/25785826.2024.2358587

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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