A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting.

doi:10.1177/00220345231165210

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Article

A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting.

Journal of dental research - 1 Jul 2023

Li M-J, Kumari P, Lin Y-S, Yao M-L, Zhang B-H, Yin B, Duan S-J, Cornell R A, Marazita M L, Shi B, Jia Z-L

Abstract excerpt

The single-nucleotide polymorphism (SNP) rs2235371 (IRF6 V274I) is associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Han Chinese and other populations but appears to be without a functional effect. To find the common etiologic variant or variants within the haplotype tagged by rs2235371, we carried out targeted sequencing of an interval containing IRF6 in 159 Han Chinese with NSCL/P....

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PMID: 37161310
DOI: 10.1177/00220345231165210
PMCID: PMC10399074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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