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Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval

The rationale for genome-wide association study (GWAS) results is sequence variation in cis-regulatory elements (CREs) modulating a target gene’s expression as the major cause of trait variation. To understand the complete molecular landscape of one of these GWAS loci, we performed in vitro reporter...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Kapoor, Ashish, Lee, Dongwon, Zhu, Luke, Soliman, Elsayed Z., Grove, Megan L., Boerwinkle, Eric, Arking, Dan E., Chakravarti, Aravinda
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6561183/
https://ncbi.nlm.nih.gov/pubmed/31068470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1808734116
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