Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R420H
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IRF6

NM_006147.4:p.R420H

Associated Papers

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Leslie EJ et al.

Clinical Genetics, 2016

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

23154523 (PubMed )
Supplement: gim2012141x3.pdf

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Tan EC et al.

International Journal of Molecular Medicine, 2008

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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."