Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2
C. E. McCarthy-Leo, G. S. Brush, R. Pique-Regi, F. Luca, M. A. Tainsky, R. L. Finley
The paper functionally tests most CHEK2 SNVs using a yeast complementation assay, finding 770 damaging and 2,417 tolerated variants, aiding in pathogenicity prediction.
bioRxiv · Dec 22, 2023 · PreprintCancer Biology