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A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants

2 Sept 2022

Abstract excerpt

Functional assays provide important evidence for classifying the disease significance of germline variants in DNA mismatch repair genes. Numerous laboratories, including our own, have developed functional assays to study mismatch repair gene variants. However, previous assays are limited due to the model system employed, the manner of gene expression, or the environment in which function is assessed. Here, we...

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PMID: 36054288
DOI: 10.1002/humu.24462

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