Article

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

2021-12-03

Abstract excerpt

<h4>Purpose</h4> Variants in genes encoding voltage-gated potassium channels are associated with a broad spectrum of neurological diseases including epilepsy, ataxia, and intellectual disability. Knowledge of the resulting functional changes, characterized as overall ion channel gain- or loss-of-function, is essential to guide clinical management including precision medicine therapies. However, for an increasing...

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Literature Corpus work: e36b254b-2f92-5712-8424-50ced4cec376
DOI: 10.1101/2021.12.02.470894

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