Genetic & Genomic MedicineScientific ReportsPeer-reviewed
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population
Claribel Tian Yu Foo, Yi Hui To, Astrid K Irwanto…·Lian Kah Ti
The paper describes the RYR1 variant landscape in a Singapore cohort using whole genome sequencing, identifying pathogenic variants and their allele frequencies across ethnic groups.
7 citations