Article

Functional annotation of non-coding variants identifies a novel enhancer with activity in neural crest cell–derived lineages

2026-06-05

Abstract excerpt

<title>Abstract</title> <p> Congenital heart disease (CHD) is one of the most prevalent and severe structural birth defects, affecting approximately 1% of live births. Because a substantial proportion of CHD patients do not harbor pathogenic mutations in protein-coding regions, non-coding variants are thought to underlie many unexplained cases. However, predicting the functional consequences of non-coding variat...

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Literature Corpus work: 54a2ce75-059a-536c-8a49-3679dbcc1e05
DOI: 10.21203/rs.3.rs-9741689/v1

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