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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| 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 |