Cancer BiologybioRxiv
A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants
A. Rath, A. A. Radecki, K. Rahman…·C. D. Heinen
The paper develops a CRISPR-based functional assay to classify MLH1 gene variants by testing their impact on protein function and DNA damage response, generating pathogenicity scores for variants of uncertain significance.
DOI 10.1002/humu.24462