Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.V297I
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IRF6

NM_006147.4:p.V297I

Associated Papers

Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

Yang CW et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024

36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P12

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

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

de Lima RL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S et al.

Nature Genetics, 2002

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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."