Browsing Institutt for klinisk og molekylær medisin by Journals "European Journal of Human Genetics"
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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
(Peer reviewed; Journal article, 2023)Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of ...