Publications:

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Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine

Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z

Publication Date: 2021

Variant appearance in text: SCN5A: K317N

PubMed Link: 34422936

Variant Present in the following documents:

• Main text
• fcvm-08-714844.pdf

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Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5.

Frontiers In Physiology

Dong, Caijuan C; Wang, Ya Y; Ma, Aiqun A; Wang, Tingzhong T

Publication Date: 2020

Variant appearance in text: SCN5A: K317N

PubMed Link: 33391024

Variant Present in the following documents:

• Main text
• fphys-11-609733.pdf

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: K317N

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: K317N

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.pdf

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A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One

Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2013

Variant appearance in text: SCN5A: K317N

PubMed Link: 23308164

Variant Present in the following documents:

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A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Circulation. Cardiovascular Genetics

Shinlapawittayatorn, Krekwit K; Dudash, Lynn A LA; Du, Xi X XX; Heller, Lisa L; Poelzing, Steven S; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2011-10

Variant appearance in text: SCN5A: K317N

PubMed Link: 21840964

Variant Present in the following documents:

• Main text

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