Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.R6insFs
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IRF6

NM_006147.4:p.R6insFs

Associated Papers

Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

Velázquez-Aragón JA et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2021

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

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

Salahshourifar I et al.

European Journal of Medical Genetics, 2012

Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.

Birnbaum S et al.

American Journal of Medical Genetics. Part A, 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

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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."