Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Eur J Hum Genet. 2025 Jun 14. doi: 10.1038/s41431-025-01891-0. Online ahead of print. ABSTRACT Structural variants (SVs) of the nebulin gene (NEB), including intragenic duplications, …