Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.W379*
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IRF6

NM_006147.4:p.W379*

Associated Papers

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

Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.

Paranaíba LM et al.

International Journal of Molecular Medicine, 2008

A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.

Brosch S et al.

International Journal of Molecular Medicine, 2007

[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].

Wang XF et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2005

Gene symbol: IRF6. Disease: Van der Woude syndrome.

Mostowska A et al.

Human Genetics, 2005

Novel mutations in the IRF6 gene for Van der Woude syndrome.

Wang X et al.

Human Genetics, 2003

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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."