Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population

Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population

Summary: Tetralogy of Fallot (TOF) is the most common cyanotic heart defect in neonates. While there is compelling evidence of genetic contribution to the etiology of TOF, the contribution of noncoding variants to the development of the defect remains unexplored. Potentially damaging noncoding de no...

Full description

Saved in:
Bibliographic Details
Main Authors: Qiongfen Lin, Detao Zhang, Peter J. Gruber, Paul Kwong-hang Tam, Vincent Chi-hang Lui, Zhongluan Wu, Haifa Hong, Kenneth R. Chien, Pak Chung Sham, Clara Sze-man Tang
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:HGG Advances
Subjects:
tetralogy of Fallot
noncoding variants
cardiac enhancers
NOTCH signaling pathway
Online Access:http://www.sciencedirect.com/science/article/pii/S266624772500017X
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S266624772500017X

Similar Items