Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
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 and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.
Chang X et al.
Frontiers in Neurology, 2022
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].
Chang XZ et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2014
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