European Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02085-y
How variant discovery redefines genetic prevalence: the case of cystine stone diseaseEuropean Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02085-y
How variant discovery redefines genetic prevalence: the case of cystine stone disease