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

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....

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發表在:Biol Methods Protoc
Main Authors: Ng, Chai-Ann, Farr, Jessica, Young, Paul, Windley, Monique J, Perry, Matthew D, Hill, Adam P, Vandenberg, Jamie I
格式: Artigo
語言:Inglês
出版: Oxford University Press 2021
主題:
Methods Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8046900/
https://ncbi.nlm.nih.gov/pubmed/33884304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/biomethods/bpab003
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