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A Massively Parallel Trafficking Assay Accurately Predicts Loss of Channel Function in <i>KCNH2</i> Variants

2021-07-11

Abstract excerpt

High throughput genomics has greatly facilitated identification of genetic variants. However, determining which variants contribute to disease causation is challenging with more than half of all missense variants now classified as variants of uncertain significance (VUS). A VUS leaves patients and their clinicians unable to utilize the variant information in clinical decision-making. In long QT syndrome type 2,...

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Literature Corpus work
2c079949-6f3e-5a7b-9b1b-e1c0ffcfdd1d
DOI
10.1101/2021.07.10.451881
Open publication

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A Massively Parallel Trafficking Assay Accurately Predicts Loss of Channel Function in <i>KCNH2</i> VariantsDOI 10.1101/2021.07.10.451881
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