We conducted a genome-wide analysis to identify regulatory variants affecting the binding of NKX2-5, a core cardiac development transcription factor, and investigated their role in cardiac gene expres

NIAID Data Ecosystem50

Comparison of echocardiographic parameters and ECG findings between patients with single and double mutation in causative genes.

心脏遗传学

超声心动图分析

Comparison of echocardiographic parameters and ECG findings between patients with single and double mutation in causative genes.

NIAID Data Ecosystem40

Genomic structural equation modeling reveals shared genetic structure of cardiac function and structure-function association studies of CLCNKA mutations

心脏遗传学

基因结构-功能关联

GWAS data on the research-generated cardiac function, CLCNKA wild type and mutant PDBx structure files

科学数据银行2025-08-23 更新50

TBX5 G125R induces profound transcriptional deregulation and atrial dysfunction in vivo [ATAC-seq]. TBX5 G125R induces profound transcriptional deregulation and atrial dysfunction in vivo [ATAC-seq]

心脏遗传学

表观遗传调控

Rationale: Pathogenic variants in the gene for T-box transcription factor (TF) 5 (TBX5) cause Holt-Oram syndrome (HOS), characterized by congenital heart defects and limb abnormalities. A particular m

NIAID Data Ecosystem50

List of cardiac GWAS SNPs associated with TBX3 peaks.

资源简介：

相关数据集