Publications:

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Human Molecular Genetics

Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM

Publication Date: 2022-10-21

Variant appearance in text: KCNH2: G816V

PubMed Link: 36269083

Variant Present in the following documents:

• Main text
• ddac261.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: G816V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.

Pacing And Clinical Electrophysiology : Pace

Krishnan, Yamini Y; Zheng, Renjian R; Walsh, Christine C; Tang, Yingying Y; McDonald, Thomas V TV

Publication Date: 2012-01

Variant appearance in text: HERG: G816V

PubMed Link: 21951015

Variant Present in the following documents:

• Main text

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A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Pacing And Clinical Electrophysiology : Pace

Chen, Jerri J; Weber, Michael M; Um, Sung Yon SY; Walsh, Christine A CA; Tang, Yingying Y; McDonald, Thomas V TV

Publication Date: 2011-12

Variant appearance in text: HERG: G816V

PubMed Link: 21895724

Variant Present in the following documents:

• Main text

View BVdb publication page