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: 3118A>G; rs199473024

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KCNH2: 3118A>G; Ser1040Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 4

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Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.

Journal Of The American Heart Association

Gibbs, Charlotte C; Thalamus, Jacob J; Tveten, Kristian K; Busk, Øyvind L ØL; Hysing, Jan J; Haugaa, Kristina H KH; Holla, Øystein L ØL

Publication Date: 2018-08-21

Variant appearance in text: KCNH2: 3118A>G

PubMed Link: 30369311

Variant Present in the following documents:

• JAH3-7-e009706-s001.pdf
• JAH3-7-e009706.pdf

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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology

Wilders, Ronald R

Publication Date: 2012

Variant appearance in text: KCNH2: S1040G

PubMed Link: 23304551

Variant Present in the following documents:

• Main text

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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology

Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M

Publication Date: 2012-08-13

Variant appearance in text: KCNH2: S1040G

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

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Cardiac potassium channel dysfunction in sudden infant death syndrome.

Journal Of Molecular And Cellular Cardiology

Rhodes, Troy E TE; Abraham, Robert L RL; Welch, Richard C RC; Vanoye, Carlos G CG; Crotti, Lia L; Arnestad, Marianne M; Insolia, Roberto R; Pedrazzini, Matteo M; Ferrandi, Chiara C; Vege, Ashild A; Rognum, Torleiv T; Roden, Dan M DM; Schwartz, Peter J PJ; George, Alfred L AL

Publication Date: 2008-03

Variant appearance in text: KCNH2: S1040G

PubMed Link: 18222468

Variant Present in the following documents:

• Main text

View BVdb publication page

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