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Select Publications
Preprints
, Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications, http://dx.doi.org/10.1101/2024.08.08.24311713
, DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands, http://dx.doi.org/10.1101/2023.09.26.23295173