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

Susan Clasper; Gunjan Trivedi; Kate Thomson; Claire Turner; Smrithi Devaiah; Catherine L. Mercer; Amnah Bdeir; Jumana Y. Al‐Aama; Khalid Dagriri; Alex Hobson; Shankar Sadagopan; Julian O.M. Ormerod; Eszter Szepesvary; J. Phan; Diane Fatkin; Jamie I. Vandenberg; Zahurul A. Bhuiyan; Chai‐Ann Ng

doi:10.1161/circgen.124.004966

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Combined RNA splicing and patch-clamp analysis reveals pathogenicity of splice-altering variants in KCNH2-related LQTS.

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Clasper et al. (2025) studied this question. Combined RNA splicing and patch-clamp analysis reveals the pathogenicity of splice-altering variants in KCNH2-related long QT syndrome.

synapsesocial.com/papers/6ab20b19bc25b6f80c7dc514 https://doi.org/10.1161/circgen.124.004966

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

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

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