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
Novel RYR1 missense mutations in six Chinese patients with central core disease.
Gu M et al.
Neuroscience Letters, 2014
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