2023Gene ReportsRequires access

Novel missense mutation in NKX2.6 gene (c.389 G > C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease

Mehri Khatami, Donya Ghazi-Nader, Fatemeh Ahmadi, Mohammad Heidari, Mehdi Hadadzadeh, Mohsen Namnabat

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Key concepts: Missense mutation, Genetics, Biology, Gene, Exon, Silent mutation, Mutation, Point mutation

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Novel missense mutation in NKX2.6 gene (c.389 G > C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease — Research Paper | ScholarLens