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
Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency.
Azizi G et al.
Immunological Investigations, 2018
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.
Azizi G et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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