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
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A et al.
Genes, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Novel RYR1 missense mutations in six Chinese patients with central core disease.
Gu M et al.
Neuroscience Letters, 2014
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