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Article

Allele-specific transcription factor binding in a cellular model of orofacial clefting.

Scientific reports - 2 Feb 2022

Ruff Katharina L M, Hollstein Ronja, Fazaal Julia, Thieme Frederic, Gehlen Jan, Mangold Elisabeth, Knapp Michael, Welzenbach Julia, Ludwig Kerstin U

Abstract excerpt

Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a frequent congenital malformation with multifactorial etiology. While recent genome-wide association studies (GWAS) have identified several nsCL/P risk loci, the functional effects of the associated non-coding variants are largely unknown. Furthermore, additional risk loci remain undetected due to lack of power. As genetic variants might alter binding...

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Identifiers

PMID: 35110662
DOI: 10.1038/s41598-022-05876-7
PMCID: PMC8810875

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