Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.E349V
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IRF6

NM_006147.4:p.E349V

Associated Papers

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

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Matsuzawa N et al.

American Journal of Medical Genetics. Part A, 2010

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

Matsuzawa N et al.

Journal of Dental Research, 2006

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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."