When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants

European Journal of Human Genetics, Published online: 01 July 2026; doi:10.1038/s41431-026-02174-y

When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants