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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Detalles Bibliográficos
Publicado en:Biol Methods Protoc
Autores principales: Ng, Chai-Ann, Farr, Jessica, Young, Paul, Windley, Monique J, Perry, Matthew D, Hill, Adam P, Vandenberg, Jamie I
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2021
Materias:
Methods Article
Acceso en línea: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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