Publications:

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN5A: L846R

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Journal Of Clinical Medicine

Oliva, Antonio A; Grassi, Simone S; Pinchi, Vilma V; Cazzato, Francesca F; Coll, Mónica M; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Cesar, Sergi S; Iglesias, Anna A; Cruzalegui, José J; Hernández, Clara C; Fiol, Victoria V; Arbelo, Elena E; Díez-Escuté, Nuria N; Arena, Vincenzo V; Brugada, Josep J; Sarquella-Brugada, Georgia G; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2022-07-28

Variant appearance in text: SCN5A: 2537T>G

PubMed Link: 35956023

Variant Present in the following documents:

• jcm-11-04406.pdf

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Evaluation Of Patients With Early Repolarization Syndrome.

Journal Of Atrial Fibrillation

Mahida, Saagar S; Sacher, Frederic F; Berte, Benjamin B; Yamashita, Seigo S; Lim, Han H; Derval, Nicolas N; Denis, Arnaud A; Shah, Ashok A; Amraoui, Sana S; Hocini, Meleze M; Jais, Pierre P; Haissaguerre, Michel M

Publication Date: 2014

Variant appearance in text: SCN5A: L846R

PubMed Link: 27957112

Variant Present in the following documents:

• Main text

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Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

Journal Of The American College Of Cardiology

Nademanee, Koonlawee K; Raju, Hariharan H; de Noronha, Sofia V SV; Papadakis, Michael M; Robinson, Laurence L; Rothery, Stephen S; Makita, Naomasa N; Kowase, Shinya S; Boonmee, Nakorn N; Vitayakritsirikul, Vorapot V; Ratanarapee, Samrerng S; Sharma, Sanjay S; van der Wal, Allard C AC; Christiansen, Michael M; Tan, Hanno L HL; Wilde, Arthur A AA; Nogami, Akihiko A; Sheppard, Mary N MN; Veerakul, Gumpanart G; Behr, Elijah R ER

Publication Date: 2015-11-03

Variant appearance in text: SCN5A: Leu846Arg

PubMed Link: 26516000

Variant Present in the following documents:

• Main text
• main.pdf

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