Image
|
Figure Caption
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.
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and
ZFIN has permission only to display this image to its users.
Additional permissions should be obtained from the applicable author or publisher of the image.
Full text @ Comput Struct Biotechnol J