European Journal of Human Genetics, Published online: 18 May 2026; doi:10.1038/s41431-026-02107-9
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screeningEuropean Journal of Human Genetics, Published online: 18 May 2026; doi:10.1038/s41431-026-02107-9
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening