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The MSH2-Y165D and MSH2-Q690E variants affect MMR function and are therefore likely the underlying cause of familial cancer predisposition. Since the MMR defect is partial, these variants may best the meaning of q690e
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A connotative definition tries to identify the intension of a term by providing a synonymous linguistic expression or an operational procedure for determining the applicability of the term. Of course, it isn't always easy to come up with an alternative word or phrase that has exactly the same meaning or to specify a concrete test for applicability.
1 2 3 4 5 6 7. 0.61799344602994621 0.66451147749468831 0.7229030033210484 0.83427410897847132. 0. 0-6.6809759096125576e-2 0.74375407887107436-1.7817371937639194e-2
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Hence, the false-positive frequency was <1/41, giving a specificity of >97.6%. We argue that the specificity of our screen may approach 100% because resistance to 6TG is a hallmark of MMR deficiency and hence, by definition, all Msh2 mutations detected in 6TG-resistant colonies by sequence analysis affect MMR activity.
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To the best of our knowledge, (i.e., pathogenicity). The methods had significant performance dif- this is the largest bioinformatic effort to classify MMR missense ferences, for example, MCC varied from 0.36 to 0.61.
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