Article

Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model

2025-10-21

Abstract excerpt

Channelopathies represent a group of diseases often caused by missense variants in ion channels affecting the functioning of tissues like the nervous system, heart, and muscle. The gold standard for functionally characterizing a variant is to measure the electrophysiological changes in channel properties using cell-based heterologous expression systems. As this method is time-consuming and generally unavailable, c...

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Literature Corpus work: dd4ab2fc-a4c3-51fe-adba-d3d3dbb3f299
DOI: 10.1101/2025.10.16.25337735

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