Cancer BiologyPLoS GeneticsPeer-reviewed
Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2
Claire E. McCarthy, George S. Brush, Roger Piqué-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.
7 citations