GenomicsThe American Journal of Human GeneticsPeer-reviewed
A multiplexed homology-directed DNA repair assay reveals the impact of ~1,700 BRCA1 variants on protein function
Lea M. Starita, Muhtadi M. Islam, Tapahsama Banerjee…·Jeffrey D. Parvin
The paper develops a multiplex HDR assay to assess the functional impact of ~1,700 BRCA1 variants, distinguishing loss-of-function from benign variants.
120 citationstop 1%