Associated Papers
Genetic variant classification by predicted protein structure: A case study on IRF6.
Murali H et al.
Computational and Structural Biotechnology Journal, 2024
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
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 2017
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
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
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S et al.
Nature Genetics, 2002
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