Výsledky vyhledávání - "Denise M. Juroske Short"

Distinguishing Loss-of-Function and Gain-of-FunctionSCN8AVariants Using a Random Forest Classification Model Trained on Clinical Features

Autor: Joshua B. Hack, Kyle Horning, Denise M. Juroske Short, John M. Schreiber, Joseph C. Watkins, Michael F. Hammer

Publikováno v: Neurology Genetics. 9:e200060

Background and ObjectivesPathogenic 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-functi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::55120f0239e9c4758f1e0b4877c18a95
https://doi.org/10.1212/nxg.0000000000200060

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