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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...

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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

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