Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction.
Zada A et al.
Frontiers in Cell and Developmental Biology, 2022
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Edward HL et al.
American Journal of Medical Genetics. Part A, 2019
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
Ji W et al.
The Journal of Surgical Research, 2014
Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.
Chen YW et al.
Pediatric Cardiology, 2011
[Mutation of TFAP-2B gene in patients with patent ductus arteriosus].
Chen YW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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