Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Q49*
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IRF6

NM_006147.4:p.Q49*

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

Yang CW et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024

36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx

Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.

Alade AA et al.

Molecular Genetics & Genomic Medicine, 2020

32558391 (PubMed )
Supplement: MGG3-8-e1355-s001.xlsx › Sheet2

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: gim2012141x1.pdf

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.

Yeetong P et al.

American Journal of Medical Genetics. Part A, 2009

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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."