An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve
Abstract
Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode...
Paper Details
Title
An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve
Published Date
Oct 1, 2020
Journal
Volume
9
Issue
5
Pages
610 - 618
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