Article

Functional annotation of de novo variants found near GWAS loci associated with cleft lip with or without cleft palate

2025-02-23

Abstract excerpt

Orofacial clefts (OFCs) are the most common craniofacial birth defects, affecting 1 in 700 births, and have a strong genetic basis with a high recurrence risk within families. While many of the previous studies have associated common, noncoding genetic loci with OFCs, previous studies on de novo variants (DNVs) in OFC cases have focused on coding variants that could have a functional impact on protein structure, a...

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Literature Corpus work: 9c4b9d53-5dd5-52aa-84cd-81fe49859a3e
DOI: 10.1101/2025.02.21.25322690

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