Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Y111H
Back to variants list

IRF6

NM_006147.4:p.Y111H

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

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations

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

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

Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.

Ye XQ et al.

International Journal of Molecular Medicine, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."