Associated Papers
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
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2021
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Witting N et al.
Neurology. Genetics, 2017
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Select a paper to view details