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Keywords: Variant of unknown significance
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Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2023) 16 (9): dmm050059.
Published: 29 September 2023
... a variant of unknown significance in the human congenital heart disease gene NKX2.5 (also known as NKX2-5 ). We generated an R321N allele of the NKX2.5 ortholog tinman ( tin ) to model a human K158N variant and tested its function in vitro and in vivo . The R321N Tin isoform bound poorly to DNA in vitro...