Associated Papers
An optimized tissue sampling scheme guided by MRI features reveals intratumoral heterogeneity in glioblastoma.
Wang JH et al.
Scientific Reports, 2025
41006500 (PubMed )
Supplement: 41598_2025_17539_MOESM6_ESM.xls › Supplementary_Table.2
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
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_
Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.
Bauerová-Hlinková V et al.
Molecules (basel, Switzerland), 2020
Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain.
Lau K et al.
Nature Communications, 2014
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