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: 2453C>G

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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Genetic variants in Colombian patients with inherited cardiac conditions.

Molecular Genetics & Genomic Medicine

Rucinski, Cynthia C; Yunis, Luz Karime LK; Rosas, Fernando F; Santacruz, David D; Camargo, Juan Manuel JM; Yunis, Juan José JJ

Publication Date: 2022-11

Variant appearance in text: KCNH2: 2453C>G; S818W

PubMed Link: 36204818

Variant Present in the following documents:

• Main text
• MGG3-10-e2046.pdf

View BVdb publication page

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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: S818W

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine

Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G

Publication Date: 2020-04

Variant appearance in text: KCNH2: S818W

PubMed Link: 32311972

Variant Present in the following documents:

• medi-99-e19749.pdf

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Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Indian Pacing And Electrophysiology Journal

Saprungruang, Ankavipar A; Khongphatthanayothin, Apichai A; Mauleekoonphairoj, John J; Wandee, Pharawee P; Kanjanauthai, Supaluck S; Bhuiyan, Zahurul A ZA; Wilde, Arthur A M AAM; Poovorawan, Yong Y

Publication Date: 2018

Variant appearance in text: KCNH2: 2453C>G

PubMed Link: 30036649

Variant Present in the following documents:

• Main text
• main.pdf

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: KCNH2: S818W

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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