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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |
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