Article

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies

2022-03-17

Abstract excerpt

<h4>Background</h4> Rare protein-altering variants in SCN5A, KCNQ1 , and KCNH2 are major causes of Brugada Syndrome (BrS) and the congenital Long QT Syndrome (LQTS). While splice-altering variants lying outside 2-bp canonical splice sites can cause these diseases, their role remains poorly described. <h4>Objective</h4> We implemented two functional assays to assess 12 recently reported putative splice-alterin...

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Literature Corpus work: b202bfb5-413b-5b7c-aa84-2c38589bb4af
DOI: 10.1101/2022.03.14.484344

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