Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Rare gain-of-function regulatory mutations explain the missing heritability of bicuspid aortic valve
Artemy Zhigulev, Andrey Buyan, Enikő Lázár…·Pelin Sahlén
The paper identifies rare gain-of-function regulatory mutations as significant contributors to the missing heritability of bicuspid aortic valve.