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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

8 Jun 2022

Abstract excerpt

Over 20% of the DNA mismatch repair (MMR) germline variants in suspected Lynch syndrome patients are classified as variants of uncertain significance (VUS). Well-established functional assays are pivotal for assessing the biological impact of these variants and provide relevant evidence for clinical classification. In our collaborative European Mismatch Repair Working Group (EMMR-WG) we compared three different...

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PMID: 35676339
DOI: 10.1038/s41431-022-01106-w

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