European Journal of Human Genetics, Published online: 05 August 2026; doi:10.1038/s41431-026-02210-x
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome projectEuropean Journal of Human Genetics, Published online: 05 August 2026; doi:10.1038/s41431-026-02210-x
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project