Article

Learning with phenotypic similarity improves the prediction of functional effects of missense variants in voltage-gated sodium channels

2022-09-30

Abstract excerpt

<h4>Background</h4> Missense variants in genes encoding voltage-gated sodium channels are associated with a spectrum of severe diseases affecting neuronal and muscle cells, the so-called sodium channelopathies. Variant effects on the biophysical function of the channel correlate with clinical features and can in most cases be categorized as an overall gain- or loss-of-function. This information enables a timely d...

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Literature Corpus work: 531df8cd-00e7-52f2-9f76-5a24ca8e8b1f
DOI: 10.1101/2022.09.29.510111

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