Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.

Brunklaus, Andreas; George, Alfred L; Lal, Dennis; Heinzen, Erin L; Goldman, Alica M

Brunklaus, Andreas; George, Alfred L; Lal, Dennis; Heinzen, Erin L; Goldman, Alica M.

Afiliación

Brunklaus A; Royal Hospital for Children, Glasgow, UK.
George AL; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Lal D; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Heinzen EL; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Goldman AM; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, North Carolina, USA.

Epilepsia ; 64(11): 2909-2913, 2023 11.

Article en En | MEDLINE | ID: mdl-37562820

Asunto(s)

Epilepsia; Variación Genética; Humanos; Variación Genética/genética; Empirismo; Pruebas Genéticas; Epilepsia/diagnóstico; Epilepsia/genética

Palabras clave

bioinformatics; channelopathy; epilepsy; genetics; validation; variant

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Variación Genética / Epilepsia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Epilepsia Año: 2023 Tipo del documento: Article

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