Autor: J. Fasham
-
Uncovering apparent incomplete penetrance of <i>TSC1</i>/<i>TSC2</i> variants: Insights from multiple population cohorts and implications for newborn screening
European Journal of Human Genetics, Published online: 18 May 2026; doi:10.1038/s41431-026-02107-9Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn sc…