Publications:

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNH2: I560T

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.pdf

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNH2: 1679T>C; Ile560Thr

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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An Update on the Structure of hERG.

Frontiers In Pharmacology

Butler, Andrew A; Helliwell, Matthew V MV; Zhang, Yihong Y; Hancox, Jules C JC; Dempsey, Christopher E CE

Publication Date: 2019

Variant appearance in text: KCNH2: I560T

PubMed Link: 32038248

Variant Present in the following documents:

• Main text
• fphar-10-01572.pdf

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Ile560Thr

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

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Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon

Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC

Publication Date: 2019-04

Variant appearance in text: LQT2: I560T

PubMed Link: 31049424

Variant Present in the following documents:

• Main text
• main.pdf

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: I560T

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNH2: I560T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: HERG: I560T

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

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