Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

ABSTRACT: We performed a massively parallel screen in human HAP1 cells to identify loss-of-function missense variants in the key DNA mismatch repair factor MSH2. Resulting variant loss-of-function (LOF) scores are strongly concordant with previous functional evidence and available variant classification.

ORGANISM(S): Homo sapiens

PROVIDER: GSE162130 | GEO | 2020/12/23

REPOSITORIES: GEO