Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.K80R
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IRF6

NM_006147.4:p.K80R

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

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Peyrard-Janvid M et al.

American Journal of Human Genetics, 2014

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

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

Malik S et al.

Clinical Genetics, 2010

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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."