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
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
Oberbeck N et al.
Nature, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.
Li EB et al.
Plos Genetics, 2017
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N et al.
American Journal of Medical Genetics. Part A, 2010
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