OMIX

Pathophysiological role of variants of the promoter region of CITED2 gene in sporadic tetralogy patients with cellular func-tion verification

OMIX001932

1Summary
Title Pathophysiological role of variants of the promoter region of CITED2 gene in sporadic tetralogy patients with cellular func-tion verification
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
2Files & Download

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File ID File Title Number/Samples File Type File Size File Suffix Download Times Download
OMIX001932-01 Screening of CITED2 gene promoter variants in TOF patients 312 Other Type of Genomic Data 93.1 MB zip 0 Unavailable

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