Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Clasper S., Trivedi G., Thomson KL., Turner CLS., Devaiah S., Mercer CL., Bdeir AY., Al-Aama JY., Dagriri K., Hobson AR., Sadagopan SN., Ormerod J., Szepesvary E., Phan J., Fatkin D., Vandenberg JI., Bhuiyan ZA., Ng C-A.

DOI

10.1161/CIRCGEN.124.004966

Type

Journal article

Publication Date

2025-04-01T00:00:00+00:00

Volume

18

Keywords

RNA splicing, alleles, introns, ion channels, long-QT syndrome

Permalink More information Close