Publications:

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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: SCN5A: L812Q

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Structure of the Cardiac Sodium Channel.

Cell

Jiang, Daohua D; Shi, Hui H; Tonggu, Lige L; Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ; Zhao, Yan Y; Yoshioka, Craig C; Zheng, Ning N; Catterall, William A WA

Publication Date: 2020-01-09

Variant appearance in text: LQT3: L812Q

PubMed Link: 31866066

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology

Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A

Publication Date: 2018

Variant appearance in text: SCN5A: L812Q

PubMed Link: 30364184

Variant Present in the following documents:

• Main text
• fphys-09-01372.pdf

View BVdb publication page

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: SCN5A: L812Q

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early afterdepolarisation tendency as a simulated pro-arrhythmic risk indicator.

Toxicology Research

McMillan, Beth B; Gavaghan, David J DJ; Mirams, Gary R GR

Publication Date: 2017-11-01

Variant appearance in text: SCN5A: L812Q

PubMed Link: 29456831

Variant Present in the following documents:

• Main text
• TX-006-C7TX00141J.pdf

View BVdb publication page

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Modeling the human Nav1.5 sodium channel: structural and mechanistic insights of ion permeation and drug blockade.

Drug Design, Development And Therapy

Ahmed, Marawan M; Jalily Hasani, Horia H; Ganesan, Aravindhan A; Houghton, Michael M; Barakat, Khaled K

Publication Date: 2017

Variant appearance in text: LQT3: L812Q

PubMed Link: 28831242

Variant Present in the following documents:

• Main text
• dddt-11-2301.pdf

View BVdb publication page

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