Associated Papers
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
Investigating dual Ca2+ modulation of the ryanodine receptor 1 by molecular dynamics simulation.
Zheng W et al.
Proteins, 2020
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.
Sambuughin N et al.
Molecular Genetics and Metabolism Reports, 2018
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