FIGURE

Fig. 4

ID

ZDB-FIG-240219-12

Publication

Murali et al., 2024 - Genetic variant classification by predicted protein structure: A case study on IRF6

Other Figures

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Fig. 4

Pathogenicity result comparison between Functional Assay and 6 Tools for IRF6 variants. For each of these categorical tools, approximately 50% of the variants have discordant results between experimental results and computational predictions. Notably, even ClinVar annotations show a discrepancy with experimental results, although many variants were not present in ClinVar.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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