Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing

Bicuspid aortic valve (BAV) is the most common congenital heart defect in human beings, with an estimated prevalence in the general population of between 0.5 and 2%. Moreover, BAV is the most common cause of aortic stenosis in the pediatric population. Patients with BAV may have no symptoms for life...

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Detalles Bibliográficos
Autores principales: Chen, Shasha, Jin, Qinchun, Hou, Shiqiang, Li, Mingfei, Zhang, Yuan, Guan, Lihua, Pan, Wenzhi, Ge, Junbo, Zhou, Daxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450445/
https://www.ncbi.nlm.nih.gov/pubmed/36071494
http://dx.doi.org/10.1186/s40246-022-00405-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450445/
https://www.ncbi.nlm.nih.gov/pubmed/36071494
http://dx.doi.org/10.1186/s40246-022-00405-z

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