Publications:

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: 2398G>T

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: G800W

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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The structural mechanism of KCNH-channel regulation by the eag domain.

Nature

Haitin, Yoni Y; Carlson, Anne E AE; Zagotta, William N WN

Publication Date: 2013-09-19

Variant appearance in text: LQT2: G800W

PubMed Link: 23975098

Variant Present in the following documents:

• Main text
• nihms507713.pdf

View BVdb publication page