CENTOGENE Biodatabank Reveals Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort

Inclusion of 602 patients from 47 countries represents the world's largest and most heterogeneous Niemann-Pick type C1 disease (NPC1) cohortStudy identified 287 unique Pathogenic/Likely Pathogenic (P/LP) variants, 73 of