Article

In silico Splicing Analysis of the PMS2 Gene: Exploring Alternative Molecular Mechanisms in PMS2-Associated Lynch Syndrome

2024-04-10

Abstract excerpt

Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impact in germline variant detection in the causative genes; however, a large proportion of patients with clinical criteria still receive uncertain or negative results. PMS2 is the...

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Literature Corpus work: ee809070-dbf5-5e06-af82-958d8510c3b3
DOI: 10.20944/preprints202404.0719.v1

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