Publications:

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: LQT3: R222P

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Circulation

Cerrone, Marina M; Remme, Carol Ann CA; Tadros, Rafik R; Bezzina, Connie R CR; Delmar, Mario M

Publication Date: 2019-08-13

Variant appearance in text: SCN5A: R222P

PubMed Link: 31403841

Variant Present in the following documents:

• Main text

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Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.

Journal Of Clinical Medicine

Asatryan, Babken B

Publication Date: 2019-07-12

Variant appearance in text: SCN5A: R222P

PubMed Link: 31336969

Variant Present in the following documents:

• Main text
• jcm-08-01029.pdf

View BVdb publication page