Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data
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DOI: 10.1002/mgg3.70026
Abstract: Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cys233del) and c.1919C… read more here.
Keywords: reclassification two; variants uncertain; two mlh1; mlh1 variants ... See more keywords