Pathophysiological role of variants of the promoter region of CITED2 gene in sporadic tetralogy patients with cellular func-tion verification
Title | Pathophysiological role of variants of the promoter region of CITED2 gene in sporadic tetralogy patients with cellular func-tion verification |
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Description | Tetralogy of Fallot (TOF) is a common congenital heart malformation. Genetic variants in the CITED2 coding region is known to be significantly associated with cardiac malformation, but the role of variants in the CITED2 promoter region in the development of TOF remains unclear. In this study, we investigated CITED2 promoter variants in the DNA of 605 subjects, including 312 TOF patients and 293 unrelated healthy controls, by Sanger sequencing |
Organism | Homo sapiens |
Data Type | Other Type of Genomic Data |
Data Accessibility | Controlled-access |
BioProject | PRJCA012124 |
Release Date | 2022-09-27 |
Submitter | Zhuo Chen (czchloe@163.com) |
Organization | TEDA International Cardiovascular Hospital |
Submission Date | 2022-09-25 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
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OMIX001932-01 | Screening of CITED2 gene promoter variants in TOF patients | 312 | Other Type of Genomic Data | 93.1 MB | zip | 0 | Unavailable |