Article
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
PeerJ - 1 Jan 2022
Lopes-Marques Monica, Silva Raquel, Serrano Catarina, Gomes Verónica, Cardoso Ana, Prata Maria João, Amorim Antonio, Azevedo Luisa
Abstract excerpt
Common genetic polymorphisms may modify the phenotypic outcome when co-occurring with a disease-causing variant, and therefore understanding their modulating role in health and disease is of great importance. The polymorphic p.His558Arg variant of the sodium voltage-gated channel alpha subunit 5 (Na V 1.5) encoded by the SCN5A gene is a case in point, as several studies have shown it can modify the clinical...
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