A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

Ng, Chai-Ann and Ullah, Rizwan and Farr, Jessica and Hill, Adam P. and Kozek, Krystian A. and Vanags, Loren R. and Mitchell, Devyn W. and Kroncke, Brett M. and Vandenberg, Jamie I. (2022) A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2. The American Journal of Human Genetics, 109 (7). pp.1208-1216. ISSN 00029297

[thumbnail of A-massively-parallel-assay-accurately-discriminates-between-functionally-normal-and-abnormal-variants-in-a-hotspot-domain-of-KCNH2.pdf]
Preview
Text
A-massively-parallel-assay-accurately-discriminates-between-functionally-normal-and-abnormal-variants-in-a-hotspot-domain-of-KCNH2.pdf
Available under License Creative Commons Attribution No Derivatives.

Download (2MB) | Preview
Link to published document: http://doi.org/10.1016/j.ajhg.2022.05.003
Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 18 Aug 2022 06:11
Last Modified: 21 Mar 2023 23:48
URI: https://eprints.victorchang.edu.au/id/eprint/1269

Actions (login required)

View Item View Item