Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genetics. The proper interpretation of genetic data is...

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Detalles Bibliográficos
Autores principales: Martínez-Barrios, Estefanía, Sarquella-Brugada, Georgia, Pérez-Serra, Alexandra, Fernández-Falgueras, Anna, Cesar, Sergi, Coll, Mónica, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, López, Laura, Fiol, Victoria, Cruzalegui, José, Hernández, Clara, Arbelo, Elena, Grassi, Simone, Oliva, Antonio, Toro, Rocío, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877366/
https://www.ncbi.nlm.nih.gov/pubmed/35207729
http://dx.doi.org/10.3390/jpm12020241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877366/
https://www.ncbi.nlm.nih.gov/pubmed/35207729
http://dx.doi.org/10.3390/jpm12020241

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