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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

27 Jul 2020

Abstract excerpt

Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contribution of splicing assay data to the classification of MMR gene sequence variants. We assayed mRNA splicing for 24 sequence variants in MLH1, MSH2, and MSH6, including...

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PMID: 32849802
DOI: 10.3389/fgene.2020.00798

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