Article
Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate.
Birth defects research - 1 Jul 2025
Curtis Sarah W, Cook Laura E, Paraiso Kitt, Visel Axel, Cotney Justin L, Murray Jeffrey C, Beaty Terri H, Marazita Mary L, Carlson Jenna C, Leslie-Clarkson Elizabeth J
Abstract excerpt
BACKGROUND: 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. AIMS: 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...
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