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Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection
BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) is recognized as a rare congenital heart defect (CHD). With a high mortality rate of approximately 80%, the survival rate and outcomes of TAPVC patients are not satisfactory. However, the genetic aetiology and mechanism of TAPVC remain...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306349/ https://www.ncbi.nlm.nih.gov/pubmed/30448225 http://dx.doi.org/10.1016/j.ebiom.2018.11.008 |