European Journal of Human Genetics, Published online: 20 July 2026; doi:10.1038/s41431-026-02190-y
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencingEuropean Journal of Human Genetics, Published online: 20 July 2026; doi:10.1038/s41431-026-02190-y
Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing