Article

Calibrated high-throughput electrophysiology enables clinical interpretation of <i>CACNA1G</i> missense variants

2026-05-18

Abstract excerpt

<h4>Objective</h4> Accurate classification of ion channel variants of uncertain significance (VUS) remains a persistent challenge in clinical genomics, limiting diagnostic resolution in neurological disorders. <h4>Methods</h4> We developed a calibrated electrophysiological framework to generate functional evidence for clinical interpretation of CACNA1G variants encoding the low-voltage-activated calcium channel...

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Literature Corpus work: 1985d23c-51a3-5bd2-9dd1-aa0e2ef11b9a
DOI: 10.64898/2026.05.10.724145

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