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An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve

BACKGROUND: 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 cardi...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Transl Pediatr
Prif Awduron: Zhao, Xiaopei, Hou, Cuilan, Xiao, Tingting, Xie, Lijian, Li, Yun, Jia, Jia, Zheng, Junming, Zhang, Yongwei, Xu, Meng
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: AME Publishing Company 2020
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7658766/
https://ncbi.nlm.nih.gov/pubmed/33209723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-20-81
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