Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.Q273H
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IRF6

NM_006147.4:p.Q273H

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

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
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