Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 1877G>C; rs199472952

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT2: G626A

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: LQT2: G626A

PubMed Link: 25417810

Variant Present in the following documents:

• Main text
• nihms634670.pdf

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNH2: G626A

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

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Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.

The Journal Of Biological Chemistry

Ferrer, Tania T; Cordero-Morales, Julio F JF; Arias, Marcelo M; Ficker, Eckhard E; Medovoy, David D; Perozo, Eduardo E; Tristani-Firouzi, Martin M

Publication Date: 2011-11-11

Variant appearance in text: KCNH2: G626A

PubMed Link: 21908602

Variant Present in the following documents:

• Main text

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Molecular determinants for activation of human ether-à-go-go-related gene 1 potassium channels by 3-nitro-n-(4-phenoxyphenyl) benzamide.

Molecular Pharmacology

Garg, Vivek V; Stary-Weinzinger, Anna A; Sachse, Frank F; Sanguinetti, Michael C MC

Publication Date: 2011-10

Variant appearance in text: KCNH2: G626A

PubMed Link: 21743002

Variant Present in the following documents:

• Main text

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