Article

Dominant negative effects of <i>SCN5A</i> missense variants

2021-09-24

Abstract excerpt

<h4>Introduction</h4> Up to 30% of patients with Brugada Syndrome (BrS) carry loss-of-function (LoF) variants in the cardiac sodium channel gene SCN5A . Recent studies have suggested that the SCN5A protein product Na V 1.5 can form dimers and exert dominant negative effects. <h4>Methods</h4> We identified 35 LoF variants (<10% peak current compared to wild type (WT)) and 15 partial LoF variants (10-50% peak...

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Literature Corpus work: 3d004620-91b5-5570-ae82-23f0ce8fa019
DOI: 10.1101/2021.09.22.461398

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