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.
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
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