Article

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

2023-08-25

Abstract excerpt

<h4>BACKGROUND</h4> Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a significant CHD risk factor in Asian populations, because Asian populations have a high degree of consanguineous marriages, which increases the risk of CHD. Genetic analysis of consanguineous families may represent...

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Literature Corpus work: 3f680a3b-48e3-5e05-8cfe-469d54b21ca3
DOI: 10.1101/2023.08.25.23294614

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