Publications:

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: 1579G>C; Gly527Arg

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.

Scientific Reports

Kapoor, Ashish A; Bakshy, Kiranmayee K; Xu, Linda L; Nandakumar, Priyanka P; Lee, Dongwon D; Boerwinkle, Eric E; Grove, Megan L ML; Arking, Dan E DE; Chakravarti, Aravinda A

Publication Date: 2016-06-20

Variant appearance in text: SCN5A: G527R

PubMed Link: 27321809

Variant Present in the following documents:

• Main text

View BVdb publication page