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The Genetic Basis of Turner Syndrome Aortopathy
Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC registry. A gene-based burden test, SKAT-O, was used to evaluate the data using bicuspid aortic valv...
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| Publicado no: | Am J Med Genet C Semin Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6425936/ https://ncbi.nlm.nih.gov/pubmed/30770620 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31686 |
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