Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation

Primary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is still challenging. We report an accurate multistage...

Descripción completa

Detalles Bibliográficos
Autores principales: Shestak, Anna G., Makarov, Leonid M., Komoliatova, Vera N., Kolesnikova, Irina V., Skorodumova, Liubov O., Generozov, Edward V., Zaklyazminskaya, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450431/
https://www.ncbi.nlm.nih.gov/pubmed/34552620
http://dx.doi.org/10.3389/fgene.2021.722291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450431/
https://www.ncbi.nlm.nih.gov/pubmed/34552620
http://dx.doi.org/10.3389/fgene.2021.722291

Ejemplares similares