Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, Rosemary M. Lemons, Sajini Jayakody, Mariam Maksutova, Jacob Otto Kitzman
The paper functionally tests MSH2 missense variants to determine their impact on Lynch Syndrome risk, finding most are neutral and providing a comprehensive functional map.
The American Journal of Human Genetics · Dec 23, 2020Peer-reviewedGenetics