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Misclassification of a frequent loss of function variant from<i>PMS2CL</i>pseudogene as a<i>PMS2</i>variant in Brazilian patients

2024-03-27

Abstract excerpt

PMS2 , a Lynch Syndrome gene, presents challenges in genetic testing due to the existence of multiple pseudogenes. This study aims to describe a series of cases harboring a rare LoF variant in the PMS2CL pseudogene that has been incorrectly assigned to PMS2 with different nomenclatures. We reviewed data from 647 Brazilian patients who underwent multigene genetic testing at a single center to identify those harbori...

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Literature Corpus work
7090c1e7-7cf7-5903-b8d1-6b795ea5ce49
DOI
10.1101/2024.03.26.24304914
Open publication

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Misclassification of a frequent loss of function variant from<i>PMS2CL</i>pseudogene as a<i>PMS2</i>variant in Brazilian patientsDOI 10.1101/2024.03.26.24304914
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