Publications:

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.

Frontiers In Pharmacology

Zaklyazminskaya, Elena E; Shestak, Anna A; Podolyak, Dmitry D; Komoliatova, Vera V; Makarov, Leonid L; Novitskaya, Anna A; Revishvili, Amiran A

Publication Date: 2022

Variant appearance in text: SCN5A: 1657G>T; rs1207394743

PubMed Link: 36091819

Variant Present in the following documents:

• Main text
• fphar-13-984299.pdf

View BVdb publication page

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Circulation. Genomic And Precision Medicine

Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER

Publication Date: 2020-12

Variant appearance in text: SCN5A: 1657G>T; E553*

PubMed Link: 33164571

Variant Present in the following documents:

• hcg-13-e002911-s001.pdf

View BVdb publication page