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Heterozygous <i>KCNH2</i> variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology

2021-02-02

Abstract excerpt

KCNH2 is one of the 59 medically actionable genes recommended by the American College of Medical Genetics for reporting of incidental findings from clinical genomic sequencing. However, half of the reported KCNH2 variants in the ClinVar database are classified as variants of uncertain significance. In the absence of strong clinical phenotypes, there is a need for functional phenotyping to help decipher the signif...

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Literature Corpus work
1b9e6398-802a-5a3d-a7f8-ed63edc8d887
DOI
10.1101/2021.02.02.427891
Open publication

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Heterozygous <i>KCNH2</i> variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiologyDOI 10.1101/2021.02.02.427891
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