Genetic & Genomic MedicineCirculationPeer-reviewed
A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand
Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli…·Apichai Khongphatthanayothin
The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.
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