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...

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Detalles Bibliográficos
Autores principales: Shi, Xin, Huang, Tao, Wang, Jing, Liang, Yulai, Gu, Chang, Xu, Yuejuan, Sun, Jing, Lu, Yanan, Sun, Kun, Chen, Sun, Yu, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research paper
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

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