Identification of functional non-coding variants associated with orofacial cleft

Abstract Oral facial cleft (OFC) comprises cleft lip with or without cleft palate (CL/P) or cleft palate only. Genome wide association studies (GWAS) of isolated OFC have identified common single nucleotide polymorphisms (SNPs) in many genomic loci where the presumed effector gene (for example, IRF6...

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Main Authors: Priyanka Kumari, Ryan Z. Friedman, Sarah W. Curtis, Lira Pi, Kitt Paraiso, Axel Visel, Lindsey Rhea, Martine Dunnwald, Anjali P. Patni, Daniel Mar, Karol Bomsztyk, Julie Mathieu, Hannele Ruohola-Baker, Elizabeth J. Leslie-Clarkson, Michael A. White, Barak A. Cohen, Robert A. Cornell
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-61734-w
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