Publications:

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: N45Y

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: N45Y

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology

Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM

Publication Date: 2018

Variant appearance in text: LQT2: N45Y

PubMed Link: 29725305

Variant Present in the following documents:

• Main text
• fphys-09-00397.pdf

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