TY  - GEN 
AU  - Martínez-Barrios, Estefanía
AU  - Sarquella-Brugada, Georgia
AU  - Perez-Serra, Alexandra
AU  - Fernandez-Falgueras, Anna
AU  - Cesar, Sergi
AU  - Coll, Mónica
AU  - Puigmulé, Marta
AU  - Iglesias, Anna
AU  - Alcalde, Mireia
AU  - Vallverdú-Prats, Marta
AU  - Ferrer-Costa, Carles
AU  - del Olmo, Bernat
AU  - Picó, Ferran
AU  - Lopez, Laura
AU  - Fiol, Victoria
AU  - Cruzalegui, José
AU  - Hernández, Clara
AU  - Arbelo, Elena
AU  - Grassi, Simone
AU  - Oliva, Antonio
AU  - Toro Cebada, Rocío
AU  - Brugada, Josep
AU  - Brugada, Ramón
AU  - Campuzano, Oscar
A4  - Medicina
PY  - 2022
SN  - 2075-4426
UR  - http://hdl.handle.net/10498/26817
AB  - 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...
LA  - eng
PB  - MDPI
KW  - sudden cardiac death
KW  - inherited arrhythmogenic syndromes
KW  - TTN
KW  - genetics
KW  - interpretation
TI  - Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
DO  - 10.3390/jpm12020241
ER  -