Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.L83V
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IRF6

NM_006147.4:p.L83V

Associated Papers

Van der Woude syndrome with novel variants: a case series.

Leung LT et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Liu H et al.

Human Molecular Genetics, 2016

26692521 (PubMed )
Supplement: supp_ddv614_ddv614supp_table2.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."