Condition: Aortic Valve Disease 1
rs1057515422
in
NOTCH1
gene and
Aortic Valve Disease 1
PMID 16025100
2005 Mutations in NOTCH1 cause aortic valve disease.
PMID 27760138
2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.