Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
40910438 (PubMed )
Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
38127101 (PubMed )
Supplement: 415_2023_12101_MOESM3_ESM.xlsx › Tabellenblatt1
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
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