Article

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

2024-11-21

Abstract excerpt

Laterality defects are defined by perturbations in the usual left-right asymmetry of organs. Due to low known genetic etiology of congenital heart disease (CHD) cases (less than 40%), we used a digenic model approach for the identification of contributing variants in known laterality defect genes (N = 115) in the exome/genome sequencing (ES/GS) data from individuals with clinically diagnosed laterality defects. Th...

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Literature Corpus work: e859ab8a-97fb-5981-a2b9-c66fbff03109
DOI: 10.1101/2024.11.19.24317385

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