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Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features

BACKGROUND AND OBJECTIVES: Pathogenic variants at the voltage-gated sodium channel gene, SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine whether patients carry gain-of-function (GOF) or loss-of-function (LOF) variants to...

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Detalles Bibliográficos
Autores principales:	Hack, Joshua B., Horning, Kyle, Juroske Short, Denise M., Schreiber, John M., Watkins, Joseph C., Hammer, Michael F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2023
Materias:	RESEARCH Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160958/ https://www.ncbi.nlm.nih.gov/pubmed/37152443 http://dx.doi.org/10.1212/NXG.0000000000200060

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