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An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière’s disease

20 May 2025

Abstract excerpt

Menière's disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response. We hypothesise that rare variation in immune response genes could drive the autoinflammatory phenotype in MD. We retrieved differentially expressed genes (DEG) from single-cell RNAseq and epigenomic datasets to search for rare...

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PMID: 40393993
DOI: 10.1038/s41525-025-00503-6

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