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Uncovering the Rare Variants of DLC1 Isoform 1 and Their Functional Effects in a Chinese Sporadic Congenital Heart Disease Cohort

Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly exp...

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Detalles Bibliográficos
Autores principales: Lin, Bin, Wang, Yufeng, Wang, Zhen, Tan, Huilian, Kong, Xianghua, Shu, Yang, Zhang, Yuchao, Huang, Yun, Zhu, Yufei, Xu, Heng, Wang, Zhiqiang, Wang, Ping, Ning, Guang, Kong, Xiangyin, Hu, Guohong, Hu, Landian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938602/
https://www.ncbi.nlm.nih.gov/pubmed/24587289
http://dx.doi.org/10.1371/journal.pone.0090215