Publication: Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants
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Objective: Determining the pathogenicity of missense variants in clinical genetic tests for individuals with epilepsy is crucial for guiding personalized treatment. However, achieving a definitive pat...
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Montanucci L, Brünger T, Boßelmann CM, Ivaniuk A, Pérez-Palma E, Lhatoo S, Leu C, Lal D. Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants. Epilepsia. 2024 Dec;65(12):3655-3663. doi: 10.1111/epi.18155
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