A Germline Chimeric KANK1-DMRT1 Transcript Derived from a Complex Structural Variant is Associated with a Congenital Heart Defect Segregating Across Five Generations.
CHROMOSOME RESEARCH（2024）
关键词
Congenital pulmonary and aortic valvular stenosis,Pulmonary artery stenosis,Structural variation,Germline chimeric transcripts,KANK1
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