Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.L251P
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IRF6

NM_006147.4:p.L251P

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

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.

Butali A et al.

Molecular Genetics & Genomic Medicine, 2014

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Desmyter L et al.

Molecular Syndromology, 2010

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

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

Ghassibé M et al.

Journal of Medical Genetics, 2004

Mutations in Van Der Woude Families From Ethiopia.

Eshete M et al.

The Journal of Craniofacial Surgery, 0

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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."