Publications:

Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNH2: 1622G>A; Arg541His

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: KCNH2: 1622G>A

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions.

Biophysical Journal

Alonso-Ron, Carlos C; de la Peña, Pilar P; Miranda, Pablo P; Domínguez, Pedro P; Barros, Francisco F

Publication Date: 2008-05-15

Variant appearance in text: HERG: R541H

PubMed Link: 18222997

Variant Present in the following documents:

• Main text

View BVdb publication page