Article

Different contribution of missense and loss-of-function variants to the genetic structure of familial and sporadic Meniere disease

2025-04-22

Abstract excerpt

Meniere disease (MD) is a chronic inner ear disorder with significant heritability. This study aims to compare the burden of rare high- and moderate-impact protein-coding variants in a MD cohort to determine whether the genetic burden in sporadic MD (SMD) overlaps familial MD (FMD), potentially revealing hidden inheritance in SMD. In this study exome sequencing identified rare variants in unrelated FMD (N=93) and...

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Literature Corpus work: 0e210834-4e48-5471-9af2-5fbb4c70a2e1
DOI: 10.1101/2025.04.22.25326157

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