Article

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

2017-11-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The explosive growth in known human gene variation presents enormous challenges to current approaches for variant classification that impact diagnosis and treatment of many genetic diseases. For disorders caused by mutations in cardiac ion channels, such as congenital long-QT syndrome (LQTS), in vitro electrophysiological evidence has high value in discriminating pathogenic...

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Literature Corpus work: 731816d7-efb3-5ecb-80ce-ca7dc4bad8b8
DOI: 10.1101/223206

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