Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.N88I
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IRF6

NM_006147.4:p.N88I

Associated Papers

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.

Schierz IAM et al.

Italian Journal of Pediatrics, 2022

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 Honduran Van der Woude syndrome patients.

Birkeland AC et al.

Molecular Medicine Reports, 0

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