Cancer BiologybioRxivPreprint
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2
Claire E. McCarthy-Leo, George S. Brush, Roger Pique-Regi…·Russell 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.
DOI 10.1101/2023.12.22.573093