A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
Article in American Journal of Medical Genetics Part A (March 2023)
The most recent citing publications are shown below. View all 16 publications that cite this research output on Dimensions.
Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia
Article in British Journal of Anaesthesia (October 2022)
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance
Article in Scientific Reports (February 2021)