Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.
Cuperman T et al.
Bmc Research Notes, 2014
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A et al.
Human Mutation, 2009
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
Barone V et al.
Journal of Medical Genetics, 1999
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