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Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series

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Therapeutic Advances in Respiratory Disease

Published online on

Abstract

Therapeutic Advances in Respiratory Disease, Volume 20, January-December 2026.
Hereditary bronchiectasis comprises a group of rare monogenic disorders, with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) representing the major subtypes. Exome sequencing (ES) remains a central modality for molecular diagnosis; however, it ...